Atlas of the Newborn Vol 2 - Musculoskeletal Disorders

Rudolph

NewbornAtlas of the

V O L U M E 2

MusculoskeletalDisordersandCongenitalDeformities

NewbornAtlas of the

V O L U M E 2

Musculoskeletal Disordersand Congenital Deformities

ii

Arnold J. Rudolph, M.D.(Deceased)

Professor of PediatricsBaylor Medical College

Houston, Texas

Arnold J. Rudolph, M.D.(Deceased)

Professor of PediatricsBaylor Medical College

Houston, Texas1997

B.C. Decker Inc.Hamilton London

NewbornAtlas of the

V O L U M E 2

Musculoskeletal Disordersand Congenital Deformities

B.C. Decker Inc.4 Hughson Street SouthP.O. Box 620, L.C.D. 1Hamilton, Ontario L8N 3K7Tel: 905 522-7017Fax: 905 522-7839e-mail: [email protected]

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vForewordSir William Osler stated, There is no more

difficult task in medicine than the art ofobservation. The late Arnold Jack Rudolphwas an internationally renowned neonatolo-gist, a teachers teacher, and, above all, onewho constantly reminded us about how muchcould be learned by simply observing, in hiscase, the newborn infant.

This color atlas of neonatology represents adistillation of more than 50 years of observingnormal and abnormal newborn infants. TheAtlas begins with a section on the placenta,its membranes, and the umbilical cord. JackRudolph delighted in giving a lecture entitledDont Make Mirth of the Afterbirth, inwhich he captivated audiences by showingthem how much you could learn about thenewborn infant from simply observing theplacenta, its membranes, and the umbilicalcord.

In a few more than 60 photomicrographs,we learn to read the placenta and gain insightinto such disorders as intrauterine growthretardation, omphalitis, cytomegalic inclu-sion disease, congenital syphilis, and congen-ital neuroblastoma. Congenital abnormalitiesof every organ system are depicted along withthe appearance of newborn infants who havebeen subjected in utero to a variety of differ-ent drugs, toxins, or chemicals. We also learnto appreciate the manifestations of birth trau-ma and abnormalities caused by abnormalintrauterine positioning.

More than 250 photographs are used toillustrate the field of neonatal dermatology.The collection of photographs used in thissection is superior to that which I have seenin any other textbook or atlas of neonatologyor dermatology; this section alone makes thisreference a required addition to the library ofany clinician interested in the care of infantsand children. Photographs of the Kasabach-Merritt syndrome (cavernous hemangiomawith thrombocytopenia), Klippel-Trnaunaysyndrome, Turners syndrome, Waardenburgssyndrome, neurocutaneous melanosis, mas-tocytosis (urticaria pigmentosa), and incon-

tinentia pigmenti (Bloch-Sulzberger syn-drome) are among the best that I have seen.

Cutaneous manifestations are associatedwith many perinatal infections. The variedmanifestations of staphylococcal infection ofthe newborn are depicted vividly in photomi-crographs of furunculosis, pyoderma, bullousimpetigo, abscesses, parotitis, dacryocystitis,inastitis, cellulitis, omphalitis, and funisitis.Streptococcal cellulitis, Haemophilus influen-zae cellulitis, and cutaneous manifestations oflisteriosis all are depicted. There are numer-ous photomicrographs of congenital syphilis,showing the typical peripheral desquamativerash on the palms and soles, as well as otherpotential skin manifestations of congenitalsyphilis which may produce either vesicular,bullous, or ulcerative lesions. The variousradiologic manifestations of congenitalsyphilis, including pneumonia alba, ascites,growth arrest lines, Wegners sign, periostitis,and syphilitic osteochondritis, are depicted.Periostitis of the clavicle (Higoumnakissign) is shown in a photograph that alsodepicts periostitis of the ribs. A beautiful pho-tomicrograph of Wimbergers sign also hasbeen included; this sign, which may appear inan infant with congenital syphilis, revealsradiolucency due to erosion of the medialaspect of the proximal tibial metaphysis.

The Atlas also includes a beautiful set ofphotographs which delineate the ophthalmo-logic examination of the newborn. Lesionswhich may result from trauma, infection, orcongenital abnormalities are included. Thereare numerous photographs of the ocular man-ifestations of a variety of systemic diseases,such as Tay-Sachs disease, tuberous sclerosis,tyrosinase deficiency, and many more.Photographs of disturbances of each of thevarious organ systems, or disorders affectingsuch organ systems, also are included alongwith numerous photographs of different formsof dwarfism, nonchromosomal syndromes andassociations, and chromosomal disorders. Inshort, this Atlas is the complete visualtextbook of neonatology and will provide any

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physician, nurse, or student with a distillationof 50 years of neonatal experience as viewedthrough the eyes of a master clinician.

Arnold Jack Rudolph was born in 1918,grew up in South Africa, and graduated fromthe Witwatersrand Medical School in 1940.Following residency training in pediatrics atthe Transvaal Memorial Hospital forChildren, he entered private pediatric prac-tice in Johannesburg, South Africa. Afteralmost a decade, he left South Africa andmoved to Boston, where he served as a SeniorAssistant Resident in Medicine at theChildrens Medical Center in Boston,Massachusetts, and subsequently pursued fel-lowship training in neonatology at the sameinstitution and at the Boston Lying-InHospital, Childrens Medical Center andHarvard Medical School under Dr. ClementA. Smith.

In 1961, Dr. Rudolph came to BaylorCollege of Medicine in Houston, Texas, theschool at which he spent the remainder of hiscareer. He was a master teacher, who receivedthe outstanding teacher award from pediatricmedical students on so many occasions thathe was elected to the Outstanding FacultyHall of Fame in 1982. Dr. Rudolph alsoreceived numerous awards over the years fromthe pediatric house staffs for his superb teach-ing skills.

He was the Director of the NewbornSection in the Department of Pediatrics atBaylor College of Medicine for many years,until he voluntarily relinquished that posi-tion in 1986 for reasons related to his health.

Nevertheless, Jack Rudolph continued towork extraordinarily long hours in the care ofthe newborn infant, and was at the bedsideteaching both students and house staff, aswell as his colleagues, on a daily basis untiljust a few months before his death in July1995.

Although Dr. Rudolph was the author orco-author of more than 100 published papersthat appeared in the peer-reviewed medicalliterature, his most lasting contribution toneonatology and to pediatrics is in the legacyof the numerous medical students, house staff,fellows, and other colleagues whom he taughtincessantly about how much one could learnfrom simply observing the newborn infant.This Atlas is a tour de force; it is a spectacularteaching tool that has been developed, col-lated, and presented by one of the finest clin-ical neonatologists in the history of medicine.It is an intensely personal volume that, as Dr.Rudolph himself states, is not intended torival standard neonatology texts, but ratherto supplement them. This statement revealsDr. Rudolphs innate modesty, since with theexception of some discussion on pathogenesisand treatment, it surpasses most neonatologytexts in the wealth of clinical informationthat one can derive from viewing and imbib-ing its contents. We owe Dr. Rudolph andthose who aided him in this work a debt ofgratitude for making available to the medicalcommunity an unparalleled visual referenceon the normal and abnormal newborn infant.

Ralph D. Feigin, M.D.June 13, 1996

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PrefaceI first became attracted to the idea of pro-

ducing a color atlas of neonatology many years ago. However, the impetus to synthesizemy experience and compile this current col-lection was inspired by the frequent requestsfrom medical students, pediatric house staff,nurses and others to provide them with acolor atlas of the clinical material provided inmy slide shows. For the past few decades Ihave used the medium of color slides and radiographs as a teaching tool. In these week-ly slide shows the normal and abnormal, aswords never can, are illustrated.

I cannot define an elephant but I know onewhen I see one.1

The collection of material used has beenadded to constantly with the support of thepediatric house staff who inform me to bringyour camera whenever they see an unusualclinical finding or syndrome in the nurseries.

A thorough routine neonatal examinationis the inalienable right of every infant. Most

newborn babies are healthy and only a rela-tively small number may require special care.It is important to have the ability to distin-guish normal variations and minor findingsfrom the subtle early signs of problems. Thetheme that recurs most often is that carefulclinical assessment, in the traditional sense, isthe prerequisite and the essential foundationfor understanding the disorders of the new-born. It requires familiarity with the widerange of normal, as well as dermatologic, car-diac, pulmonary, gastrointestinal, genitouri-nary, neurologic, and musculoskeletal disor-ders, genetics and syndromes. A backgroundin general pediatrics and a working knowl-edge of obstetrics are essential. The generallayout of the atlas is based on the above.Diseases are assigned to each section on thebasis of the most frequent and obvious pre-senting sign. It seems probable that the find-ings depicted will change significantly in thedecades to come. In this way duplication has

been kept to a minimum. Additional spacehas been devoted to those areas of neonatalpathology (e.g., examination of the placenta,multiple births and iatrogenesis) which poseparticular problems or cause clinical concern.

Obviously, because of limitations of space, it is impossible to be comprehensive andinclude every rare disorder or syndrome. Ihave tried to select both typical findings andvariations in normal infants and those foundin uncommon conditions. Some relevant conditions where individual variations needto be demonstrated are shown in more thanone case.

As the present volume is essentially one ofmy personal experience, it is not intended torival standard neonatology texts, but is pre-sented as a supplement to them. It seemslogical that references should be to standardtexts or reviews where discussion on patho-genesis, treatment, and references to originalworks may be found.

Helen Mintz Hittner, M.D., has been kindenough to contribute the outstanding sectionon neonatal ophthalmology.

I have done my best to make the necessaryacknowledgements to the various sources forthe clinical material. If I have inadvertentlyomitted any of those, I apologize. My most sincere appreciation and thanks to DonnaHamburg, M.D., Kru Ferry, M.D., MichaelGomez, M.D., Virginia Schneider, PA, andJeff Murray, M.D., who have spentinnumerable hours in organizing and cullingthe material from my large collection. Wewish to thank Abraham M. Rudolph, M.D.,for his assistance in reviewing the material.We also wish to thank the following peoplefor their photo contributions to this work:Cirilo Sotelo-Avila, Stan Connor, AvoryFanaroff, Milton Finegold, Brian Kershan,Tom Klima, Susan Landers, Gerardo Cabera-Meza, Ken Moise, Don Singer, EdwardSingleton.

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It is hoped that this atlas will provideneonatologists, pediatricians, family physi-cians, medical students and nurses with abasis for recognizing a broad spectrum of nor-mal variations and clinical problems as wellas provide them with an overall perspectiveof neonatology, a field in which there contin-ues to be a rapid acceleration of knowledge

and technology. One must bear in mind thecaveat that pictures cannot supplant clinicalexperience in mastering the skill of visualrecall.

1. Senile dementia of Alzheimers type normal aging ordisease? (Editorial) Lancet 1989; i:476-477.

Arnold J. Rudolph, M.D.

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CONTENTS

Volume IIMusculoskeletal Disorders andCongenital Deformities

1. Musculoskeletal Disorders 1

2. Dwarfism 53

3. Non-Chromosomal Syndromes, Associations and Sequences 87

4. Chromosomal Disorders 159

Index 185

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Although several texts provide extensive written descriptions of disorders of the newborninfant, the senses of touch, hearing and, especially, sight, create the most lasting impressions.Over a period of almost five decades, my brother Jack Rudolph diligently recorded in pictorialform his vast experiences in physical examination of the newborn infant. The Atlas of theNewborn reflects his selection from the thousands of color slides in his collection, and it trulyrepresents the art of medicine as applied to neonatology. A number of unusual or rareconditions are included in this atlas. I consider this fully justified because, if one has not seenor heard of a condition, one cannot diagnose it.

This, the second of the five-volume series, includes three main topics: skeletal disorders, aswell as dwarfism; multiple congenital anomaly syndromes; and chromosomal disorders.

Genetic skeletal disorders include a large group of anomalies which may be associated withdwarfism of various types, and may result in forcal structural or functional disorders. Theexamples of these disorders shorn in this volume draws attention to their appearance in theneonate, thus permitting early recognition of these anomalies.

Patients with multiple congenital anomaly syndromes and chromosomal disorders present areal challenge to the clinician, and recognition is often particularly difficult in the neonatalperiod. Although many descriptions of the various syndromes have been published, fewprovide good graphic examples. It is of utmost importance that these multiple congenitalanomaly syndromes and chromosomal disorders be recognized as early as possible, so thatappropriate therapeutic options, prognosis and recurrence risks can be presented to the families.The high quality photographs of various manifestations to these disorders will be of tremendousassistance to the clinician in recognizing them in the neonatal period.

This volume will be extremely valuable, not only to obstetricians, neonatologists and nursesinvolved in the perinatal period, but also to orthopaedists and clinical geneticists.

Abraham M. Rudolph, M.D.

Introduction

Chapter 1Musculoskeletal DisordersAlthough some congenital musculoskeletal dysplasias are among the most obvious disorders of theneonate, they are also the most unusual. Congenital absence of all or part of a limb, deformitiesof the feet or hands, and lesions of the neck and trunk are rarely a diagnostic problem. The mostcommon musculoskeletal dysplasias are among the most difficult to diagnose. Congenital hip dis-location may not be diagnosed even after repeated examination by experienced observers.Musculoskeletal infections complicating sepsis produce few subtle signs and may be easily over-looked. This is further complicated by the general concept that early diagnosis and treatmentresults in the greatest potential for normal growth and development of the infant. The examina-tion of the musculoskeletal system should include inspection (e.g., looking for anomalies in con-tour position, and in spontaneous and reflex movement) and palpation (e.g., to determine if thereare abnormalities in passive motion) and should be systematic to ensure completeness.

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2 Musculoskeletal Disorders and Congenital Deformities

Figure 1.1. Chest radiograph showing 11 ribs. The pres-ence of 11 ribs is not an uncommon finding in normalinfants but occurs with greater frequency in infants withDown syndrome. Note the cardiac enlargement andenlarged thymus.

Figure 1.2. Radiograph showing 13 ribs bilat-erally in an otherwise normal infant.

Figure 1.3. Lateral radiograph of the spine showingthe bone-in-bone appearance of the vertebralbodies. This is a striking example of growth arrestbut otherwise is a nonspecific finding.

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Figure 1.4. This figure shows the growth arrestlines in the long bones of a term infant with severeintrauterine growth retardation. Note the lack ofthe distal femoral and proximal tibial ossificationcenters, normally appearing at 36 and 38 weeksrespectively, also caused by growth retardation.Hypothyroidism is also a consideration.

Figure 1.5. A radiograph of the lowerextremities in a term infant showing thegrowth arrest lines. Note that in this infant the distal femoral tibial and proxi-mal tibial ossification centers are present.

Figure 1.6. A radiograph showing faulty segmentationof vertebrae in an infant with rachischisis. This defectmay be seen in infants with the VATER syndrome andother congenital anomalies.Hemivertebrae may occur in the cervical or thoracicspine, and less commonly in the lumbar spine. An isolated hemivertebra may not be recognized clinicallybut can cause abnormal posture (scoliosis). More com-monly, hemivertebrae are multiple and may be associ-ated with other skeletal abnormalities, as in the ribs.

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Musculoskeletal Disorders 3


Figure 1.7. Congenital scoliosis is rare in neonates but mayoccur in association with structural anomalies of the vertebralspine. In this infant, the congenital scoliosis was associatedwith abnormal segmentation of vertebrae.

Figure 1.8. In this infant with caudal regression syndrome, the mother was a class B diabetic. Oligo-hydramnios was present, but renal function was normalin the infant. Note the arthrogryposis of the lowerextremities.

Figure 1.9. Lateral view of the same infantshowing the prominent end of the spine andarthrogryposis of the lower extremities.

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Figure 1.10. Frontal view of the same infant showingthe short lower extremities due to the marked arthro-gryposis affecting the hip, knee, and ankle joints.Infants with lumbosacral agenesis clinically adopt theso-called Buddha position.

Figure 1.11. The same infant showing the arthrogry-posis but note the dimple at the knee. Skin dimplessuch as this are associated with pressure over a jointand lack of movement.

Figure 1.12. Anteroposterior andlateral radiographs demonstrating the lumbosacral agenesis.

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Figure 1.13. Radiograph of thelower extremities of the same infant.Note the abnormal developmentof the pelvis due to the lumbosacralagenesis, the thin, poorly developedbones and lack of muscle mass. Thisis due to lack of fetal movement andresulting arthrogryposis.

Figure 1.14. An asymmetric form of thecaudal regression syndrome and hypoplasticleft lower extremity associated with hypopla-sia of muscles and sciatic nerve on the leftside.

Figure 1.15. Anteroposterior andlateral radiographs of the sameinfant. Note the hemicaudal dys-plasia. Also note the bilateral pul-monary hypoplasia.

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Figure 1.16. Close-up radiograph of the pelvis and lower extremities in the same infant. There are lumbar and sacral hemivertebrae with left scoliosis and vertebral fusion, hypoplasia of left pelvic bones, dislo-cation of the left hip, and a hypoplas-tic left lower extremity.

Figure 1.17. Anteroposterior and lateral radiograph of aninfant with sacral agenesis, born to a diabetic mother. This is one of the classic abnormalities reported in infants of dia-betic mothers.

Figure 1.18. Sirenomelia (mermaid fetus) in an infant of adiabetic mother shows the severe postural deformities associ-ated with the oligohydramnios which is always present ininfants with sirenomelia because of renal agenesis. Theseinfants typically lack an anus and have abnormal genitalia.Note the Potter facies, low-set ears, epicanthal folds andmicrognathia associated with oligohydramnios and renal age-nesis.

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Figure 1.19. The same infant as in Fig.1.18 placed in its position-of-comfort inutero. Note that the fused lowerextremities give the typical appearanceof a mermaid.

Figure 1.20. Note the anal atresia and postural deformitiesof the hands and lower body in the same infant.

Figure 1.21.A n t e r o p o s t e r i o r and lateral radiographsof the same infantshow the markedscoliosis, the abnormalpelvis and the fusedfemora.

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Figure 1.22. Radiograph of the sameinfant showing the fused femora, separatetibiae and abnormal development of thefoot.

Figure 1.23. This infant of a diabetic mother exhibitssirenomelia with total lack of development of the geni-talia and an imperforate anus. Associated with the renalagenesis is oligohydramnios; this infant also demon-strates the typical Potter facies. Note the low-set ear, flatnose and micrognathia.

Figure 1.24. Sirenomelia in another infant of a diabetic mother; theinfant had severe oligohydramnios associated with renal agenesis.There were no external genitalia and anal atresia was present, but notethat this infant had a tail present.

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Figure 1.25. A close-up of the face of the same infant withthe typical Potter facies associated with oligohydramniosand renal agenesis. Note the low-set abnormal ears, the flatnose, and micrognathia. Epicanthal folds were also present.

Figure 1.26. Radiograph of the lowerextremities of the same infant withsirenomelia shows the presence of twoseparate femora with fusion of soft tissue,two separate tibiae, and a single fibuladistally.

Figure 1.27. Ameliaof all extremities(tetramelia). Ameliais absence of theentire limb structure.There was a history ofconsanguinity. Apartfrom the abnormali-ties of the extremities,this infant was nor-mal.

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SKELETAL DEFICIENCIESSkeletal deficiencies may be longitudinal defects which affect the limb on one side of the central axis or transversedefects in which the limb is truncated abruptly and the limb may terminate at any level but distal involvement ismore common than proximal. Thus, radial aplasia with absence of the thumb and forefinger is characterized as apreaxial longitudinal hemimelia of the upper limb. Similarly, involvement of the lower limb would produce tibialaplasia. The affected limb will be curved toward the side of the deficiency and usually will be somewhat foreshortened. In transverse defects the defect closely resembles a congenital amputation but usually there is somedegree of hypoplasia of the remaining proximal structures and the distal stump of the limb is not scarred but com-monly small nubbins of tissue representing rudimentary digits may be present. Differentiation should be madebetween transverse defects, which are primary limb reduction defects, and secondary limb reduction defects whicharise as a result of disruption.

Figure 1.28. Close-up of the upperextremities of the same infant.

Figure 1.29. Close-up of thelower extremities of the sameinfant.

Figure 1.30. An infant withamelia of the upper extremi-ties and ectromelia of thelower extremities. Ectromeliais the absence or incompletedevelopment of the longbones of one or more of thelimbs. This may represent themost extreme form of anintercalary defect. In totalamelia, a form of ectromelia,no limb elements whatsoeverare present.

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Figure 1.31. Close-up of amelia ofupper extremities of the sameinfant. This infant had abnormalscapulae.

Figure 1.32. Close-up of ectromelia ofthe lower extremities of the sameinfant.

Figure 1.33. Chest radiograph ofthe same infant. Note the abnor-mal scapulae and total absence ofthe upper extremities. This radi-ograph stresses the importance oflooking at the total radiograph andnot the lungs alone when lookingat a chest radiograph.

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Figure 1.34. In a radiograph of the lower extremitiesof the same infant, note that there are no hip jointsand that the femora and fibulae are absent bilaterally.

Figure 1.35. This otherwise normal infant has an isolated limb malformation of the left arm. This isa transverse defect and is a primary limb reduc-tion defect.

Figure 1.36. This infant represents an example ofunilateral non-thalidomide-induced phocomelia.This malformation, which was common in thalido-mide-exposed babies, is, otherwise, a very rare con-genital malformation.

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INTERCALARY DEFECTSIntercalary defects are those in which a more proximal portion of a limb fails to develop properly but distal struc-tures are relatively intact. An extreme example is phocomelia, which involves partial or complete underdevelop-ment of the rhizomelic and mesomelic limb segments. The structures of the hands and feet may be reduced to asingle digit or may appear relatively normal but arise directly from the trunk like the flippers of a seal. In less severecases, portions of the proximal limb may remain.


Figure 1.37. Close-up of the phocomelia in the sameinfant as in Figure 1.36. This is a primary limb reduction defect in that there was lack of the humerus,radius, and ulna in the left upper extremity. In phocomelia there may be absence of the femur, tibia,and fibula in the lower extremities. There may be bilateral involvement of the extremities.

Figure 1.38. Hemimelia of the rightupper extremity. This is another exampleof a transverse defect in which a limb istruncated abruptly. This is a primary limbreduction defect.

Figure 1.39. Close-up of hemimelia in same infant.Note the well-developed hand.

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Figure 1.40. This infant has the thrombocytopenia-absent radius (TAR) syndrome. There is absence ofthe radius bilaterally. Note that the absence of theradius of the right forearm has resulted in a clubhand. In the TAR syndrome the thumb is alwayspresent.Clinical signs of radial dysplasia include a shorteningof the forearm with radial displacement of the hand(club hand). Varying degrees of dysplasia occur,ranging from complete absence of the radius withmajor malformations of the preaxial (radial) side ofthe hand to normal development of the radius andonly minor anomalies of the thumb.

Figure 1.41. Another view of the same infantwith the TAR syndrome showing the left forearmand hand. Again note the presence of the thumb.Some dysmorphic syndromes, such as the TARsyndrome, may show varying combinations of thedifferent types of limb defect. There is a preaxiallongitudinal defect (absence of the radius), but theulna is also short and the thumb and forefinger areinvariably present as expected with an intercalarydefect. Radial dysplasia may be associated with pancy-topenia as in Fanconis syndrome but may also beassociated with congenital heart disease andabnormalities of other parts of the skeleton.

Figure 1.42. This infant hasFanconis syndrome. Note thecongenital absence of the rightradius and right thumb. InFanconis syndrome the thumbmay occasionally be present. Notethe club hand with absence of theradius and the thumb. This maybe unilateral or bilateral. InFanconis syndrome there is pan-cytopenia (anemia, neutropenia,and thrombocytopenia) in addi-tion to the hypoplastic or absentthumbs and hypoplastic or absentradius.

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Figure 1.43. Another view of thesame infant as in Figure 1.42 show-ing the absence of the radius andright thumb with the typical clubhand.

Figure 1.44. Another example ofFanconis syndrome with congenitalabsence of the right radius and thumband thrombocytopenia (platelet count of30,000/mm3). Note the skin dimples atthe elbow which are related to theinfants position in utero.

Figure 1.45. Radiograph of the rightupper extremity of the same infantshowing the absence of the radius andright thumb.

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Figure 1.46. In this infant with Holt-Oram syndrome(cardiac limb syndrome), note the congenital absence ofthe left radius and thumb. The infant also had coarcta-tion of the aorta. Holt-Oram syndrome may be associ-ated with any congenital cardiac defect of which atrialseptal defect is the most common. A family history ofthis condition is common.

Figure 1.47. Bilateral congenital absence of thumbs and radii inan otherwise normal infant. The father of this infant had the samecongenital abnormalities. It is important to obtain a good familyhistory as this condition may be familial.

Figure 1.48. Congenital absenceof the right thumb was present inthis otherwise normal infant.

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Figure 1.49. Another example of congenitalabsence of the thumb in an otherwise normalinfant but note there is syndactyly between thethird and fourth fingers.

Figure 1.50. Acheiria of the right hand in an infant.This occurs because of a failure of formation of thehand as an isolated defect. The radius and ulna may beforeshortened, there are no metacarpals or phalangesseen radiologically, the thumb may be normally formed,and rudimentary nails may be present. This is an exam-ple of a transverse defect in which there is hypoplasiaof all structures distal to a particular level on the limb.Usually there is preservation of the more proximalparts which may be normal or diminished in size.

Figure 1.51. This otherwise normalinfant had microcheiria of the lefthand. Note the normal right hand.The normal hand is about twice aslong as it is wide. If metacarpalhypoplasia is present it produces anunusually short palm.

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Figure 1.52. Note themicrocheiria of the righthand in this infant withCornelia de Langes syn-drome. This is not anuncommon finding ininfants with this syn-drome.

Figure 1.53.Brachydactyly of theright hand. This findingmay be isolated but isseen in many syndromes.

Figure 1.54. Dorsal view of congenital brachy-dactyly of the index and middle fingers of left hand.The father had the identical type of congenitalbrachydactyly. Asymmetric length of the fingers is usually theresult of hypoplasia of one or more phalanges.Tapered fingers may indicate mild hypoplasia of themiddle and distal phalanges.

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Figure 1.55. Ventral view of the righthand of the same infant as in Figure 1.54.

Figure 1.56. Identical bilateral congeni-tal brachydactyly in the infants father.

Figure 1.57. Camptodactyly (bent, con-tracted digits) most commonly affects thefifth, fourth and third digits in decreasingorder of frequency. Presumably, it is theconsequence of relative shortness in thelength of the flexor tendons with respectto growth of the hand. It may occur as anisolated finding but is more commonlyassociated with lack of movement in utero.It is usually bilateral and symmetrical.Each finger should be extended passivelyto its full extent. Extension of less than180 degrees at any joint signifies joint con-tracture (camptodactyly).

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Figure 1.58. Camptodactyly of fingers in aninfant with arthrogryposis.

Figure 1.59. The hand of the same infant showing theseverity of the contractures and lack of palmar creasesdue to the severe contractures. Note the depression inthe palm resulting from the contracted fingers.

Figure 1.60. Supernumerarydigit in which the thin pedicle dis-tinguishes it from true polydactyly.In polydactyly the additional digitmay consist solely of soft tissue orless commonly has skeletal ele-ments.

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Figure 1.61. Postaxial polydactyly is mostcommonly seen in black infants where itoccurs as an autosomal dominant trait. Thepolydactyly may be noted as a nubbin of scartissue, as a pedunculated mass attached by asmall pedicle, or as a fully developed digit.Polydactyly may be preaxial, occurring at thethumb or big toe, or postaxial, arising on theulnar aspect of the fifth finger or fibularaspect of the fifth toe. Central polydactylydoes occur but is extremely rare. The vastmajority of infants with polydactyly havepostaxial polydactyly.

Figure 1.62. Another example of postaxialpolydactyly with a well-developed digit. Thesedigits may be fairly well formed with one ormore rudimentary phalanges. Duplication ofdigits occurs when one or more extra digital raysare formed during the embryonic period.Polydactyly is an associated finding in manysyndromes such as trisomy 13 or 18, Ellis-vanCreveld syndrome, Carpenters syndrome, etc.

Figure 1.63. Bilateralpostaxial polydactyly.Note that polydactylymay be unilateral orbilateral.

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Figure 1.64. Postaxial polydactyly in aninfant at birth showing a necrotic, almostamputated, extra digit due to interferencewith circulation. This would explain whysome infants with polydactyly may onlyhave evidence of scarring on the lateralside of the digit.

Figure 1.65. This infant has preaxial polydactyly of theright hand. Preaxial polydactyly is less common but hasthe same range of severity, with the accessory tissue usu-ally arising from the midportion of the thumb or first toe.

Figure 1.66. In this infant with preaxial poly-dactyly, note that the extra digit is poorly developed.

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Figure 1.67. Partial cutaneous syndactyly rep-resents an incomplete separation of the fingersand occurs most commonly between the thirdand fourth fingers and between the second andthird toes. Syndactyly is the most frequentform of hand anomaly. It is often bilateral andmay be combined with polydactyly, congenitalfinger amputations, and syndromes. Syndactylyrefers to fusion of the soft tissues without syn-ostosis (bony fusion). If there is synostosis, theterm symphalangism is used.

Figure 1.68. This infant withAperts syndrome (acrocephalosyn-dactyly) shows symmetric syn-dactyly of both hands. In Apertssyndrome, total syndactyly mayinvolve the full length of the handsor feet. They appear cupped andmitten-like and may have a singleundulating band-shaped nail.

Figure 1.69. In Carpenters syndrome(acrocephalopolysyndactyly), polysyndactyly isa prominent feature. Note the webbingbetween the digits; the extra digit can be notedbehind the fifth digit.

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Figure 1.70. Polysyndactyly (seven digits)with brachydactyly and hypoplastic nails inan infant with Ellis-van Creveld syndrome.

Figure 1.71. There was a family history of broadthumbs and toes in this otherwise normal infantwho exhibits an overgrowth anomaly of thethumbs and big toes. Syndromes such asRubenstein-Taybi and Larsens syndrome shouldbe excluded in infants with broad thumbs andtoes.

Figure 1.72. A broad spatulate thumbin an infant with Larsens syndrome.

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Figure 1.73. A dorsal (left) andventral (right) view of digitaliza-tion of the right thumb in aninfant with imperforate anus andmicrophthalmia. Karyotype wasnormal. If there are three phalanges com-prising the thumb (triphalangealthumb), conditions such asFanconis pancytopenia syn-drome and Holt-Oram syndromeshould be considered in the dif-ferential diagnosis. A tripha-langeal thumb lies in the sameplane as the fingers.

Figure 1.74. A palmar view of digitalization of theright thumb in another infant. Note the extra creasesin the thumb. This infant also had bifid big toes withpolydactyly.

Figure 1.75. The hitchhiker thumb is a proximallyplaced thumb caused by hypoplasia of the firstmetacarpal. The thumb is retroflexed with hypoplasiaof the thenar eminence. This type of thumb is typicalin diastrophic dwarfism.

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Figure 1.76. Pouce flottant (floating thumb) of theright hand. In this condition there is an absent orhypoplastic first metacarpal.

Figure 1.77. Another example of pouceflottant. There is an absence or maldevel-opment of the first metacarpal with pha-langes.

Figure 1.78. An early insult to the limb bud in the 5th to 6th embry-ologic week may result in a duplication of parts, especially of the handsand feet, such as this bifid thumb.

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Figure 1.79. Palmar adduction (cortical thumb) ina normal infant. The thumbs are freely mobile but areheld adducted and flexed across the palms with thefingers tightly clutched over them. Cortical thumbsare a manifestation of hypertonicity when they arepresent beyond the first 3 to 4 months. Constant pal-mar adduction or clasped thumb after this agewould alert one to the possibility of central nervoussystem pathology. Clasped thumbs are held in aflexed and adducted position across the palm and can-not be abducted or extended.

Figure 1.80. In infants with neonatal Marfansyndrome, the thumb may extend beyond thefifth finger when the infant fists its hand. Thisinfant with Marfan syndrome had anupper/lower segment ratio of 1.52. The normalupper/lower segment ratio in the neonate is 1.69to 1.7. It is much reduced in Marfan syndromeand increased in short-limbed dwarfism andhypothyroidism. Note that the fingers are long,tubular, and relatively slender.

Figure 1.81. The typical appearance of the fingers intrisomy 18. Note the index finger overlapping the thirdfinger and the fifth finger overlapping the fourth finger.Also note the hypoplastic nails.

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Figure 1.82. Bilateral trigger fingers in a neonate. Triggerdigits may involve the thumbs or the fingers. The fingersmay present with clicking, flexion contractures of theproximal interphalangeal joint, or both. They are muchless commonly involved than the thumbs which presentwith a palpable nodule at the proximal flexor tendon pul-ley at the level of the metacarpophalangeal joint. Triggerthumbs must be distinguished from a congenital claspedthumb in which the deformity usually affects themetacarpophalangeal joint. Figure 1.83. Macrodactyly of the rightmiddle finger occurring from a localized

overgrowth of a digit. This occurs mostfrequently as a random isolated enlarge-ment of a finger or toe, or it may be asso-ciated with vascular or lymphaticmalformations or may occur in neurofi-bromatosis.

Figure 1.84. Ventral view of the macrodactyly of the rightmiddle finger in the same infant. This was an isolated findingin this infant.

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Figure 1.85. Radiograph of the hand of the infantshown in Figure 1.84 showing the macrodactyly ofthe right middle finger.

Figure 1.86. Macrosyndactyly of the third andfourth fingers of the left hand. This infant hada massive diffuse lymphangioma involving theleft side of the neck, the chest, and the upperextremity.

Figure 1.87. In these infants with lob-ster-claw deformity (ectrodactyly, or splithand/split foot deformation), the typicalV-shaped cleft is noted on the left. In thisclassic form, all four limbs are involved.The feet are usually more severely affectedthan the hands. This type is strongly famil-ial and is usually inherited as an autosomaldominant. The atypical type of lobster-claw deformity is seen on the right. Notethat the cleft is wider (U-shaped defect)with only a thumb and small fingerremaining. This atypical type has nogenetic basis and usually involves a singleupper extremity but always spares the feet.

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Figure 1.88. Typical V-shapedlobster-claw deformity of thehands. The lobster-claw defor-mity may be associated withother malformations, often as agenetically determined syn-drome. In the hand, the typicaldeformity consists of theabsence of the third digital ray,with a deep triangular cleftextending to the level of thecarpal bones. Fingers borderingthe cleft may show clinodactyly,camptodactyly, or syndactylyand are sometimes hypoplasticor completely missing.

Figure 1.89. The typical V-shapedlobster-claw deformity of the feet inthe same infant.

Figure 1.90. The atypical type of lob-ster-claw deformity (U-shaped defect)which only involved the right hand ofthis infant. Note the wider cleft. This isa sporadic defect.

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Figure 1.91. A primaryreduction malformation of thefingers of the right hand.

Figure 1.92. Congenital hypertrophy of the leftupper extremity of an infant at the age of fivemonths. This is also known as segmental hyper-trophy or local acromegaly. This is often notobvious at birth but becomes more apparentwith increasing age. Limb asymmetry can becaused by vascular anomalies that produce local-ized overcirculation, but more commonly isfound as an isolated phenomenon. When suchasymmetry affects one entire side of the body,the term hemihypertrophy is used.Differential diagnosis of hemihypertrophyincludes neurofibromatosis, Wilms tumor,Beckwith-Wiedemann syndrome, Klippel-Trnaunay syndrome, and Russell-Silver dwarf,but most commonly this is an idiopathic finding.

Figure 1.93. The same infant demonstrat-ing the congenital hypertrophy of the leftupper extremity.

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Figure 1.94. A frontal view of a neonatewith congenital dislocation of the hip.Note the asymmetry of the skin folds. Incongenital dislocation of the hip, asym-metry is not commonly noted in theneonatal period. Congenital dislocation isvery much more common in femaleinfants.

Figure 1.95. A dorsal view of the sameinfant shows the asymmetric gluteal foldsand other skin folds. In the neonatalperiod the asymmetry of the gluteal foldsand other skin folds is usually not asapparent as it is in this infant.

Figure 1.96. Congenital hip dislocationand bilateral club feet in an infant withPolands anomaly. Note the asymmetry ofthe creases. Congenital hip dislocation is commonly associated with the presenceof other congenital postural deformities.Also note the bilateral talipes equino-varus.

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Figure 1.97. Radiograph of congenital dislocation ofthe hip.

Figure 1.98. Proximal focal femoral deficiency ofthe right side in an otherwise normal infant. Thisis a congenital defect of unknown cause, usuallyconsisting of a shortening and contracture of theproximal portion of the femur with or withoutinvolvement of the pelvic bones. The severity ofthe condition depends on the presence or absenceof the femoral head and acetabulum. Treatment isdirected towards stabilizing the hip. Correction ofthe leg length discrepancy may require an amputa-tion above the knee and fitting with a prosthesis.

Figure 1.99. Radiograph of the same infant showingthe proximal focal femoral deficiency.

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Figure 1.100. Hypotrophic left lowerextremity. This may occur in the caudalregression syndrome or may be due tointerference with the vascular supply tothe lower extremity.

Figure 1.101. Hypoplastic right lower extrem-ity with four toes on the right foot.

Figure 1.102. The same infantshowing the hypoplasia of the rightlower extremity and the presenceof four toes on the right foot. Notethat the hypoplasia can be subtle.

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Figure 1.103. Congenital absence of patellaein a normal infant. This finding is also notedin trisomy 8 and Nievergelt syndrome.

Figure 1.104. In this infant with thetibia reduction-polydactyly syndromethere is an absence of the tibiae bilater-ally with septadactyly on the right footand octadactyly on the left foot.Absence or hypoplasia of the tibia wasseen in the thalidomide syndrome. It isotherwise rare, whereas absence of thefibula is more common. It is more com-mon in males, more often unilateraland more common on the right side.

Figure 1.105. In the tibia reduction-polydactylysyndrome, the fibula may be shortened but is other-wise normal and the patella may be absent.Associated malformations are common and strik-ingly heterogeneous. Note the skin dimple at theknee joint and the skin dimple over the leg, and thebilateral pes equinovarus associated with theabsence of the tibiae. The plantar surface of the footis turned medially.Skin dimples at a joint are seen normally in infantsbut dimples over a long bone are always associatedwith pathology.

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Figure 1.106. Tibia reduction-poly-dactyly syndrome in the same infantshowing the septadactyly of the rightfoot, octadactyly of the left foot andbilateral pes equinovarus because ofabsence of the tibia.

Figure 1.107. Octadactyly and pes equino-varus of the left foot in the same infant. Notethe position of the big toe. The extra digitsare therefore preaxial.

Figure 1.108. The same infant showingthe septadactyly and pes equinovarus of theright foot. Note the position of the big toe.The extra digits are also preaxial.

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Figure 1.109. Talipes equinovarus (congenital clubfoot).There has been much discussion as to whether this is a truecongenital malformation or whether it occurs as a result of apostural deformity (intrauterine molding). The foot cannotbe dorsiflexed to the normal position and the heel is fixed inthe varus deformity.

Figure 1.110. Another view of the foot of the sameinfant.

Figure 1.111. Talipes equinovarus(congenital clubfoot) in an infantwith Polands anomaly. Talipesequinovarus is frequently associatedwith congenital hip dysplasia,neural tube defects, and neuromus-cular conditions.

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Figure 1.112. The same infant showing the posi-tion of the feet in utero, suggesting that the defectoccurred as a result of a congenital postural defor-mity. In infants with clubfoot occurring as a con-genital malformation, skin dimples are not presentat the ankles, whereas in infants with clubfoot asso-ciated with postural deformations, dimples may bepresent over the joint as is noted in this infant.

Figure 1.113. Bilateral clubfootin an infant with myotonic dys-trophy. The lack of fetal move-ment in utero caused thisdeformity. Clubfoot is commonlyseen in infants with neuromus-cular diseases such as neural tubedefects and amyotonia congenita(Oppenheims disease).

Figure 1.114. Rocker-bottomfeet are noted in this infant withtrisomy 18. Posterior calcanealextension is present and the con-vex appearance of the sole of thefoot resembles a rocking chair.


Figure 1.117. Microsyndactyly of the toes in anotherwise normal infant.

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Figure 1.116. An example of ectrodactyly ofboth feet. Note that there are three toes on theright foot and three toes on the left foot withfusion of the first and second toes. The solecreases are poorly developed.

Figure 1.115. This infant with aneural tube defect presents a classicappearance of rocker-bottom feetwith marked posterior calcanealextension. Rocker-bottom feet arecommonly seen in infants withneural tube defects.

Figure 1.120. Bilateral polydactylyof toes in identical twins.

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Figure 1.118. Polydactyly of toes of the right foot.

Figure 1.119. Polydactyly of the toes of both feet.


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Figure 1.121. Central poly-dactyly and syndactyly of the firstand second toes of the right footin an infant of a diabetic mother.Otherwise, the infant was normal.

Figure 1.122. Central polydactyly of theleft foot with syndactyly of the first andsecond toes of both feet. This infant, whoclinically was not typical of a trisomy 18,had the radiographic findings of a gracileappearance of the ribs and an antimon-goloid pelvis. The karyotype was a typicaltrisomy 18.

Figure 1.123. Syndactyly in an otherwise normalinfant is of no medical or cosmetic significance andinvolves the toes more frequently than the fingers.Syndactyly refers to fusion of the soft tissues withoutsynostosis. It is also seen in many syndromes such asSmith-Lemli-Opitz, Aperts, and trisomy 18.

Figure 1.124. Syndactyly of thesecond and third toes bilaterallywith markedly hypoplastic nailsin an infant who also had a float-ing thumb of the right hand.Chromosomes were normal.

Figure 1.125. Mild syn-dactyly of the second andthird toes in an infant withthe other typical findings oftrisomy 18, namely the shortbig toes and hypoplastic nails.

Figure 1.126. Symmetrical syndactyly of the toesin an infant with Aperts syndrome (acrocephalo-syndactyly).In symphalangism, no joint movement whatever ispossible at the sites of the affected interphalangealjoints because the bony fusion has taken place. Theabsence of flexion creases is an excellent clue tothe presence of this anomaly.

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Figure 1.127. Another example ofsymmetrical syndactyly of the toes inAperts syndrome.

Figure 1.128. Bilateral symmetricalpolysyndactyly giving the appearance ofwebbing between the toes in aninfantwith Carpenters syndrome(acrocephalopolysyndactyly).

Figure 1.129. Broad toes in a normal infant. This maybe familial. Broad toes are seen in certain syndromessuch as Rubenstein-Taybi syndrome and Larsenssyndrome.

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Figure 1.130. Preaxial poly-dactyly with bifid big toes in anotherwise normal infant.

Figure 1.131. Bifid big toes withpolydactyly in an infant who alsohas digitalization of the thumbs.

Figure 1.132. Duplication of the big toe. Radiographshowed two separate digits. This may result from anearly insult to the limb bud in the 5th to 6th week ofgestation.

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Figure 1.133. Congenital curly toes(overlapping toes). These are very com-mon and are often familial. The abnor-mality becomes less obvious as the infantgrows.

Figure 1.134. Hypertrophy of the third toeof the right foot. This may occur as an iso-lated finding or may be seen in neurofibro-matosis or in infants with vascularmalformation of a digit.

Figure 1.135. Dorsal view of macrosyn-dactyly of the second and third toes ofthe right foot.

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Figure 1.136. Plantar view of the toes ofthe same infant.

Figure 1.137. Single palmar crease and clinodactylyin the left hand of an otherwise normal infant. Singlepalmar creases are noted bilaterally in 1 to 2% of nor-mal infants and unilaterally in 6% of normal infants. Itis present in about 50% of patients with Downsyndrome. It is twice as common in males as in femalesand it is associated with many syndromes. Palm creasesform in response to flexion at the metacarpophalangealjoints and opposition of the thumb. Three deep creasesare usually seen but there are many normal variants.

Figure 1.138. Single palmar crease and clinodactylyof the right hand. Clinodactyly is the incurving of thefinger to one side, usually toward the midline, due toan absent or hypoplastic middle phalanx. Involvementof the fifth finger is most common. With an absentphalanx only two creases are present as in this infant.With a hypoplastic middle phalanx, the number ofcreases is normal but creases are closer together andwill slope toward each other rather than being parallel.It is noted in otherwise normal infants but also occursin many syndromes.

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Figure 1.139. An extra crease on the fifth finger.

Figure 1.140. Increased number of fingercreases in an otherwise normal infant.Increased finger creases may be seen in normalinfants and in infants that have increased laxityof the joints such as in Larsens syndrome andEhlers-Danlos syndrome. They often signifyincreased fetal activity at 11 to 12 weeks of fetallife when the creases normally become evident.Hence, gross alteration in crease patterning isusually indicative of an abnormality in formand/or function of the hand prior to the 11thfetal week. If there is a lack of fetal movementbefore this period of gestation, the number offinger creases is decreased.

Figure 1.141. The father of the same infant also hadincreased finger creases. He was otherwise normal andhad no problems. The thenar crease normally circlesthe base of the thenar eminence, extending distally tobetween the thumb and index fingers. The distal pal-mar crease traverses the palm beneath the last threefingers, beginning at the ulnar edge of the palm andcurving distally to exit between the middle and indexfingers. The proximal palmar crease may be less welldefined. It begins over the hypothenar eminence andnormally extends parallel to the distal crease to exitnear or fuse with the distal portion of the thenarcrease.

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Figure 1.142. Increased and abnormal finger creasesdue to laxity of joints in an infant with Larsenssyndrome. Note the single palmar crease.

Figure 1.143. This infant has decreased creases inboth the fingers and the palm due to lack of fetalmovement. Absence of normal flexion creases invari-ably signifies inadequate movement of the underlyingjoints. Changes in the palmar crease include the singlepalmar crease (simian crease) and the bridged palmarcrease (Sydney line) in which there is an extension ofthe proximal transverse crease which reaches the ulnarborder of the hand and the medial edge of the palmbetween the index and middle fingers.

Figure 1.144. Lack of fetal move-ment is seen in acute infantilespinal atrophy (Werdnig-Hoffmanndisease). Lack of normal develop-ment of the finger creases is due tolack of fetal movement early in ges-tation. On the left, note the posi-tion of comfort of the fingers withdeep depression in the palm shownon the right.

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Figure 1.145. Lack of creases of the palm andfingers in an infant with amyotonia congenita.

Figure 1.146. Hypoplastic (absent or sparse) dermalridges and absence of flexion creases on the fingers andpalms are seen in this infant with the fetal akinesiasequence (Pena-Shokeir phenotype).

Figure 1.147. This infant with arthrogryposis multi-plex congenita shows the lack of palmar and fingercreases due to lack of fetal movement before the 10thto 12th weeks of gestation.

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Figure 1.148. Arthrogryposis multiplexcongenita in this infant shows the contrac-tures which occur in this condition. Theyare usually symmetrical and involve all fourextremities but may involve only the upperor lower limbs. There is muscular hypoto-nia, generalized thickening of the skin withdimpling, and hip subluxation; and bilat-eral talipes equinovarus, opisthotonos andscoliosis of the spine are common.

Figure 1.149. Contracture of the hand in aninfant with arthrogryposis multiplex con-genita.

Figure 1.150. Contracture of the lower extremity inthe same infant. These infants commonly have bilat-eral talipes equinovarus.

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Figure 1.151. Dimples at the knee inan infant with arthrogryposis multi-plex congenita. Normally dimples at ajoint are of no significance, but theymay occur with contractures and lackof movement as in this infant.

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Chapter 2DwarfismDwarfs frequently present in the newborn period, but sometimes the diagnosis is not obvious untilthere is additional disproportionate growth. There are many different kinds of dwarfs and thenomenclature is descriptive of the portions of the long bones affected. Rhizomelic shorteningrefers to the proximal portions of the long bones (e.g., upper arms and thighs). Mesomelic short-ening refers to the central segments of the long bones (e.g., forearms and legs). Acromelic short-ening refers to the hands and feet. All three segments may be affected simultaneously butunequally, as in achondroplasia in which the most severe effect is in the proximal segment. Allfour limbs may be involved as in Conradi-Hnermann syndrome. Only the femur may be involvedas in femoral hypoplasia syndrome or only the forearms may be affected as in Robinows syndrome.A general knowledge of the various kinds of dwarfs is important in their recognition. Frequently,consultation with a radiologist, geneticist, pediatrician or neonatologist experienced in recog-nizing dwarfs may be necessary.

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Figure 2.3. A radiograph of the upper extremitiesshowing the short proximal parts. Note that the typi-cal changes in the long bones are not yet present.

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Figure 2.1. Achondroplasia (rhizomelicdwarfism). This is dominantly inherited but manycases occur by spontaneous mutation. There areshort proximal parts of the arms and legs (rhi-zomelic micromelia), marked lordosis, caudal nar-rowing of the spine, and spade-like hands (shorttrident hand with short metacarpals and pha-langes). Note the normally sized but laterallycompressed trunk.

Figure 2.2. The head of the same infant showingthe large square head with bossing of the foreheadand a depressed nasal bridge. Infants with achon-droplasia may have megalencephaly (macroen-cephaly).In hypochondroplasia syndrome there is a near nor-mal craniofacies but the limbs are short and there iscaudal narrowing of the spine.

Figure 2.4. A radiograph of the lower extrem-ities showing the short proximal parts. Notethat the bones are broad and short.

Figure 2.5. Radiograph of skull on the left showing thelarge size, shortened base and shallow sella turcica. Thisis characteristic in achondroplasia. On the right is a radi-ograph of the left hand showing the broad and shortbones.

Figure 2.6. A radiograph of the lower extremities inan infant with achondroplasia. Note the broad shortbones with irregular and flared epiphyseal lines. Notethe typical telephone handle appearance of thefemur.

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Figure 2.7. Another example of achondroplasia in a term infant. The infantslength was 45 cm with an upper/lower segment ratio of 2.3. The upper/lower seg-ment ratio for a term infant is 1.7. The shortness of length and the increase inupper/lower segment ratio is due to the short lower extremities. The head cir-cumference of 36 cm is above the 90th percentile.

Figure 2.8. A radiograph of an infantwith achondroplasia. Note the rhizomelicupper extremities and the narrow ribswhich result in compression of the chest.

Figure 2.9. Camptomelic dys-plasia. Note the short limbs andmarked bowing of the tibiae inthis autosomal recessive type ofdwarfism. The infants have a flatfacies with a low nasal bridge andmicrognathia. The majority ofinfants die in the neonatal periodfrom respiratory insufficiency.

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Figure 2.10. Note the bowed tibiaeand the skin dimple over the mid-portion of the leg in the same infantwith camptomelic dysplasia. Theseoccur as a result of absent orhypoplastic fibulae in these infants.

Figure 2.11. The same infant showing theleft hand and the right leg. Note the shortstubby fingers, single palmar crease andclinodactyly of the fifth finger and the ante-rior bowing of the tibia with skin dimplingover the convex area. Dimples at a jointare common and usually normal but thepresence of skin dimples between joints,such as in this infant, always signifies under-lying pathology.

Figure 2.12. Note the marked shortening ofthe proximal portion of the right upperextremity compared with the distal portion inan infant with camptomelic dysplasia.

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Figure 2.13. A radiograph of the chest of thisinfant shows the small thoracic cage with thin,short clavicles and hypoplastic scapulae. This is atypical finding in camptomelic dysplasia.

Figure 2.14. Radiograph of the upper extremitiesof the same infant with camptomelic dysplasiashowing the hypoplastic scapulae, bowing of longbones, radioulnar dislocation and short proximalphalanges.

Figure 2.15. Radiograph of the lowerextremities of the same infant with camp-tomelic dysplasia. Note the marked bowingof the long bones with cortical thickeningof the concave border and thinning of theconvex border. Also note the absent leftfibula and hypoplastic right fibula.

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Figure 2.16. Radiograph of the upper and lowerextremities showing the stippling of the epiphysesof an infant with chondrodystrophia calcificanscongenita. This may occur as a rhizomelic formwith a flat facies, low nasal bridge and cataracts,short humeri and femora, coronal clefts in the vertebrae, and punctate epiphyseal mineralization.It also occurs in an autosomal dominant form(Conradi-Hnermann syndrome) in which there isasymmetric limb shortness and early punctate epiphyseal mineralization. In infants with stipplingof the epiphyses, consideration should also be givento the diagnoses of Zellweger syndrome and thefetal warfarin syndrome.

Figure 2.17. Radiograph of the neck in the sameinfant showing the characteristic stippling at thehyoid bone and the spine.

Figure 2.18. In this infant with cleidocranial dysplasia, an auto-somal dominant condition, the shoulders clinically appear normal.They may present with hanging narrow shoulders, pectus excava-tum, and abnormal shoulder movement due to the bilateralabsence of the clavicles. In any infant with wide open sutures andfontanelles or wormian bones on clinical examination of the skull,one should always check the clavicles to exclude the diagnosis ofcleidocranial dysostosis.

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Figure 2.20. Radiograph of the chest shows theabsence of the clavicles.

Figure 2.21. This figure shows the same infant with frontaland parietal bossing. The face appears small with a broad noseand depressed nasal bridge, and there is a groove over themetopic suture. The infant also had a large, open fontanelle.

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Figure 2.19. The same infant as in Figure 2.18with cleidocranial dysplasia showing theapproximation of the shoulders in front of thechest due to the absence of the clavicles.These infants present with other findings.Aplasia or defective development of the clavi-cles and laxity of the ligaments allow the for-ward folding of the shoulders. Defectivemineralization of other parts of the skeletonmay occur.

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Figure 2.22. The same infant showing thebrachycephalic skull and frontal and parietalbossing.

Figure 2.23. The radiograph of the skull in the sameinfant. Note the wide open fontanelles due to theirdelayed closure. There is also marked widening of thecranial sutures.

Figure 2.24. A lateral radiograph of the skull in aninfant with cleidocranial dysostosis showing themarked frontal and parietal bossing and brachycephaly.

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Figure 2.25. This infant with cleidocranial dysostosis hashypoplastic clavicles and had the typical findings in theskull. In cleidocranial dysostosis there may be partial tocomplete dysplasia of the clavicles.

Figure 2.26. The radiograph of the pelvis and long bones of the sameinfant shows the poorly developed pelvis with small ilia and markedseparation of the symphysis pubis.

Figure 2.27. Radiograph of the pelvis of thefather of the same infant at the age of 25years. Note the retarded ossification of thecorpora and inferior rami of the pubic bonesand the retarded ossification of the symphysispubis (i.e., symphysis pubis gap is not fused).

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Figure 2.28. Radiograph of the fathers skull showingthe poor ossification and multiple wormian bones.

Figure 2.29. This infant with diastrophic dysplasiapresents the marked narrowing of the chest, the shortlimbs and the typical hitchhiker thumbs (hyperex-tensible and hyperabductable). In this autosomalrecessive condition there is disproportionate dwarfism(abnormal shortness of the proximal parts of thelimbs), club feet, and widening between the first andsecond toes (sandal sign). The big toes are abducted.

Figure 2.30. This figure is a close-upof the typical hitchhiker thumbs inthe same infant with diastrophic dys-plasia. The hitchhiker thumb iscaused by hypoplasia of the firstmetacarpal, and the long axis of thedigit is oriented almost horizontally inrelation to the palm. The thumb isretroflexed with hypoplasia of thethenar musculature. Radiographicexamination of the long bones inthese infants demonstrates spreadingof the metaphyses and delayed closureand deformation of the epiphyses.

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Figure 2.31. This infant has a rare form ofshort-limbed dwarfism. The diagnosis isanisospondylic camptomicromelic dwarfism(dyssegmental dwarfism). This condition isautosomal recessive, there is disproportion-ate short stature, flat facies, flat nose andmicrognathia. Cleft palate is common.There is a short neck and narrow thoraxwith short bent extremities and decreasedjoint mobility. A radiograph of the spine isdiagnostic in that there are short vertebralbodies with segmentation defects.

Figure 2.32. A lateral view of the same infant.

Figure 2.33. A close-up view of the same infant showing the flatfacies with a flat nose, micrognathia and a short neck.

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Figure 2.35. The lower extremities of the same infantshowing the marked camptomicromelia.

Figure 2.36. Radiograph of the chest and spine of the same infantwith dyssegmental dwarfism. Note the anisospondyly (segmentationdefects of the vertebral bodies), abnormalities of the ribs, hypoplas-tic scapulae, and ilia with irregular borders.

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Figure 2.34. The right upper extremity ofthe same infant showing the camptomi-cromelia and the small thorax.


Figure 2.39. This infant with chondroectodermal dysplasia (Ellis-vanCreveld syndrome) presents with the typical short distal extremities, shortribs, polydactyly, nail hypoplasia, neonatal teeth, and congenital heart dis-ease. Although atrial septal defect is most common, this infant had ahypoplastic left heart. Note that the extremities are plump and markedly andprogressively shortened distally, that is, from the trunk to the phalanges. Birthweight was 2880 g, length was 44.5 cm (

Figure 2.41. Note the typical lowerextremities in the same infant. Thelimbs which are short and plump becomemarkedly and progressively shorteneddistally, that is, from the trunk to thephalanges. Also note the very smallpenis (genital anomalies are not uncom-mon in this condition).

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Figure 2.42. Preaxial polydactyly and brachydactyly in anotherinfant with Ellis-van Creveld syndrome. Note the markedlyhypoplastic nails.

Figure 2.40. A close-up of the left hand of theinfant shown in Figure 2.39 showing polydactyly(seven digits) and brachydactyly.


Figure 2.43. Postaxial polydactyly of thetoes in an infant with Ellis-van Creveld syn-drome. In this syndrome, polydactyly is notedin the fingers in 100% of cases but is presentin the toes in only 10 to 20%.

Figure 2.44. In this infantwith Ellis-van Creveld syn-drome, note on the left theshort upper lip with mid-line defect due to fusion ofthe upper lip to the maxil-lary-gingival margin. Onthe right, note that thefusion of the upper lip tothe maxillary-gingival mar-gin results in a lack of themucobuccal fold or sulcuswhich normally is presentanteriorly.

Figure 2.45. This infant withEllis-van Creveld syndromedemonstrates on the left thefusion of the labiogingival mar-gins so there is no sulcus to theupper lip. Also note thehypoplastic neonatal teeth inthe upper jaw. On the right,note the hypoplastic neonatalteeth in the lower jaw.Neonatal teeth are present in30% of infants with Ellis-vanCreveld syndrome.

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Figure 2.46. A radiograph of the chest of an infant with Ellis-van Creveld syndrome. Note the long narrow chest and shortribs with cardiac enlargement. Congenital heart disease is pre-sent in 50 to 60% of cases of Ellis-van Creveld syndrome. Thisinfant had a large atrial septal defect, the most common lesionseen in Ellis-van Creveld syndrome.

Figure 2.47. Radiograph show-ing the mesomelic shorteningof the limbs and polydactyly.The proximal end of the ulnaand distal end of the radius areswollen and bulbous giving theappearance of two paralleldrumsticks that point in oppo-site directions.

Figure 2.48. Radiograph of the hand in an infant with Ellis-van Creveldsyndrome. Note that the phalanges are short but that the proximal pha-langes are relatively long compared to the others. Adults, therefore, can-not make a tight fist. Also note the fusion of the fifth and sixthmetacarpals.

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Figure 2.49. Short-limbed dwarfism in aninfant with congenital hypophosphatasia.There is failure of calcification of all bonesresulting in marked bowing. This autoso-mal recessive condition is associated with asevere deficiency of tissue and serum alka-line phosphatase. It presents with bowedlower extremities with overlying cutaneousdimpling and short ribs resulting in a smallthoracic cage. Death usually occurs fromrespiratory insufficiency.

Figure 2.50. Close-up view of the arm of the same infantshowing the marked bowing at the forearm.

Figure 2.51. The lower right leg of the sameinfant showing the marked bowing with a largeskin dimple over the middle of the leg. This isa classic physical sign in infants with congeni-tal hypophosphatasia.

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Figure 2.52. Radiograph of the upper extremity show-ing the osteoporosis and metaphyseal flaring withmarked bowing of the radius and ulna bilaterally.

Figure 2.53. Radiograph of the lowerextremities of the same infant showing thegross osteoporosis and metaphyseal flaringwith marked bowing of the femora, tibiaeand fibulae.

Figure 2.54. Radiograph of the skull of an infant withcongenital hypophosphatasia. Note the marked lack of mineralization with deformity of the skull.Characteristic is the large size of the skull, shortenedbase, and a shallow sella turcica. There is late closureof the fontanelles. This appearance is comparable tothe skull seen in infants with osteogenesis imperfecta.

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Figure 2.55. Radiograph of the skull of another infant withcongenital hypophosphatasia. Note that some mineralization ispresent but that it is very poor.

Figure 2.56. In this infant withasphyxiating thoracic dystrophy(Jeunes syndrome) note the abnor-mally long and narrow thorax withhigh clavicles and a large abdomen.The narrow thorax due to short ribsresults in limited chest wall move-ment. As a result of this, there is a lackof space in the subcostal area and theliver lies completely in the abdomen.These infants may have hypoplasticlungs and renal pathology in the formof cystic tubular hypoplasia and/orglomerular sclerosis.

Figure 2.57. Another infant with asphyxiating tho-racic dystrophy. Again note the small thorax due toshort ribs, the high clavicles and what appears to beabdominal distention due to the fact that the wholeliver is in the abdomen. These infants give the appear-ance of having widely spaced nipples. There is short-ening of the arms and legs as well as an inability toextend the forearm at the elbow joint. The conditionis autosomal recessive.

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Figure 2.58. Anteroposterior and lateral radiograph of aninfant with asphyxiating thoracic dystrophy. Note the shortribs which are horizontally placed, giving the appearance of along narrow chest. The heart is normal in size but appears tobe large because of the narrow thorax. Note the high clavicles,which are of normal size.

Figure 2.59. Radiograph of an infantwith asphyxiating thoracic dystrophy.Note the very short ribs with a long nar-row chest and the high clavicles.

Figure 2.60. Radiographof the pelvis of an infantwith asphyxiating thoracicdystrophy. Note the hy-poplastic iliac wings andflattened acetabula withspike-like projections atthe lower margins of the sciatic notches.

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Figure 2.61. Radiograph of an infant with metatropic dys-plasia. This is another form of dwarfism associated with a nar-row thorax, thoracic kyphoscoliosis and metaphyseal flaring(giving the typical dumb-bell appearance). The proportionof the length of the trunk to the extremities reverses duringchildhood. At first the trunk is too long and the extremitiestoo short. With increasing kyphoscoliosis the trunk becomesshort. Figure 2.62. Radiograph of the lower

extremities of the same infant showingthe short limbs with typical dumb-bellappearance of the femora, which occursas a result of huge epiphyses. There ishypoplasia of the basilar pelvis with hor-izontal acetabula, a short, deep sacroiliacnotch, and squared iliac wings.

Figure 2.63. Radiograph of skull in an infant withmetatropic dysplasia. Note the poor mineralization andthe very prominent occiput.

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Figure 2.64. Type II osteogenesisimperfecta which is perinatally lethal.Death occurs before or shortly afterbirth. The lethal form is autosomallydominant but they are mostly newmutations. Rarely it is autosomallyrecessive. Note the markedly abnor-mal skull (which is soft and impres-sionable) and short limbs due toosteogenesis imperfecta. The damageto the neck and abdomen was presentat birth.

Figure 2.65. Another infant with severe osteogenesisimperfecta with marked shortening of long bones due tomultiple fractures in utero as seen in the upper extremi-ties and a grossly abnormal hand. This infant is anotherexample of type II osteogenesis imperfecta. The head isgrossly abnormal. The ear is not truly low set but givesthis appearance due to the abnormal skull.

Figure 2.66. This infant with short extremities due to multiple in utero fractures is an example of type III osteogenesis imperfecta. The head isslightly enlarged, giving the ears a low-set appearance.

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Figure 2.67. Total body radiograph of the sameinfant as in Figure 2.66 showing the numerousintrauterine fractures of the long bones of theextremities resulting in shortening of the extremi-ties, and the intrauterine fractures of the ribs result-ing in a narrow chest. Note the density above theright side of the pelvis. This is the umbilical cordstump which appears as an opacity in an abdominalradiograph where gas is lacking in the gastrointesti-nal tract.


Figure 2.68. Another example of type III osteo-genesis imperfecta showing the bowing and short-ening of limbs due to intrauterine fractures. Theskull is large and abnormal due to the lack of min-eralization and multiple wormian bones. Thisinfant also has a narrow chest due to intrauterinefractures of the ribs.

Figure 2.69. Radiograph of the skull in an infant with osteo-genesis imperfecta. Note the lack of mineralization withwormian bones. Clinically one feels multiple small bones overthe skull. There is a thin cortex with minimal skull ossificationand generalized osteoporosis.

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Figure 2.71. Radiograph of osteogenesis imper-fecta in a neonate. Note the fracture of the proxi-mal part of the left femur and the marked bowingof the other long bones. This alerts one to the factthat mild forms of osteogenesis imperfecta mayoccur.

Figure 2.72. Type III osteo-genesis imperfecta in identi-cal twins. Note the large headsand the bowing of the longbones due to mild intrauterinefractures.

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Figure 2.70. Another radiograph of an infantwith type III osteogenesis imperfecta. Note theintrauterine fractures and bowing of the longbones.


Figure 2.73. Radiograph of the skulls of the same twins asin Figure 2.72 showing the marked lack of mineralization.

Figure 2.74. Short-limbed dwarfism inan infant with the Saldino-Noonan syn-drome. This infant demonstrates themarked narrowing of the thorax with alarge abdomen. The large abdomen iscommonly seen in infants with a narrowthorax because the subcostal space is toosmall to accommodate the liver. Theabdomen, per se, is normal. In this form ofshort-limbed dwarfism there is a narrowchest, due to short ribs, and polydactyly.(Richardson MM, Beaudet AL, WangerML, Malinis Rosenberg HS, Lucci JL:Prenatal diagnosis of recurrence ofSaldino-Noonan dwarfism. J. Pediatr 91:467-471. Reprinted with permission fromMosby Year Book, Inc., St. Louis, MO.)

Figure 2.75. Body radiograph of an infant with Saldino-Noonan syndrome. In this form of short-limbed dwarfism,hydrops is usually present, the chest is extremely narrow due tothe very short horizontal ribs, and the long bones areextremely short and jagged.

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Figure 2.76. Anteroposterior and lateralradiograph of another infant with Saldino-Noonan syndrome. Note the horizontal,very short ribs, the high clavicles and theextremely short, jagged long bones.

Figure 2.77. Skull radiograph, anteroposterior and lateral,showing the poor mineralization. Note the high clavicles.

Figure 2.78. A close-upof the right upper extrem-ity showing the extremelyshort, jagged long bonesand poor development ofthe metacarpals and pha-langes. Note the poly-dactyly.

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Figure 2.79. In Seckels bird-headed dwarfismthere is severe growth retardation with proportionaldwarfism. This infant at 35 weeks gestation had abirth weight of 910 g, a length of 31.5 cm, and ahead circumference of 23 cm, all less than the 10thpercentile. There was severe microcephaly withpremature fusion of all sutures, prominent eyes, aprominent beak-like nose, micrognathia, and mal-formed ears (low-set and lack of lobe). Theseinfants have postnatal growth retardation and mod-erate to severe mental retardation.

Figure 2.80. A close-up of the face of the sameinfant showing the severe microcephaly, the promi-nent eyes, the beak-like nose, and micrognathia.Note the low-set ear with lack of ear lobe. On CTscan the ventricles were barely perceptible andsmall in size.

Figure 2.81. A less severe example of the Seckels bird-headeddwarfism in which the microcephaly is striking but the other featuresare not as prominent.

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Figure 2.82. Radiograph of the skull in the sameinfant with Seckels bird-headed dwarfism. Notethe narrow (but not closed) sutures and tooth budmineralization (incisors and first molars) in thisinfant. The tooth mineralization indicates thatthis infant had a gestational age of 35 weeks.

Figure 2.83. This infant is atypical example of spondy-lothoracic dysplasia (Jarcho-Levin syndrome). She hadmarked shortness of the neckand posterior aspect of thechest, with an increased diame-ter of the thoracic cage. Thelimbs were long and thin withtapering digits. Note the broadforehead and wide nasal bridgewith anteverted nares. Theseinfants typically have multipleanomalies of the vertebrae anda short thorax with a dimin-ished number of ribs.

Figure 2.84. View of the back ofthe head and neck of the sameinfant showing the marked short-ness of the neck and prominenceof the occiput.

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Figure 2.85. The fingers of the same infant as in Figure2.83 and 2.84 show the typical long tapering digits(arachnodactyly) which are often noted in spondylotho-racic dysplasia.

Figure 2.86. In this figure, note theextremely long tapering toes of the sameinfant.

Figure 2.87. Chest radi-ograph of an infant withspondylothoracic dysplasiashowing the grotesque andbizarre deformity of the ribsand spine. There is markedvertebral column shorten-ing and numerous vertebralanomalies consisting ofhemivertebrae, absent ver-tebrae, cleft vertebrae, andopen neural arches. Thesevere deformity of thespinal column leads to pos-terior crowding and a fan-like appearance of the ribson the frontal radiograms.The thorax is short on theright side due to a dimin-ished number of ribs. Therib deformities are asym-metric.

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Figure 2.88. Radiograph of the thorax andabdomen in a less severe example of spondy-lothoracic dysplasia. Note the markedabnormalities in segmentation of the verte-brae. These abnormalities extend the totallength of the spine, resulting in markeddeformity of the spine (scoliosis, kyphosis).

Figure 2.89. Short-limbed dwarfism in an infant withthanatophoric dysplasia. This form of dwarfism is morecommon in males. Note the large head and hyper-telorism. The chest is markedly narrowed with a largeprotruding abdomen. The limbs are short and there areincreased skin folds about the extremities. These infantsdo not survive.

Figure 2.90. Lateral view ofthe same infant with thana-tophoric dysplasia. The lengthof the infant at term was 40 cmdue to the extremely shortenedand bowed extremities. Thehead is large with a circum-ference of 40 cm. Note theprominent forehead.

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Figure 2.91. The right hand of the same infantdemonstrating the marked brachydactyly and a singlepalmar crease.

Figure 2.92. Another example ofan infant with thanatophoric dys-plasia. Note the hypotonia, largehead, narrow thorax due to shortribs, prominent abdomen, andmarkedly shortened extremities.These infants with their large headand micromelia may be mistakenlydiagnosed as having achondroplasia.

Figure 2.93. A close-up of theface of the same infant showingthe large head, prominent fore-head, hypertelorism, and flat nasalbridge. Note the narrow chestand short upper extremity withbrachydactyly.

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Figure 2.94. Body radiograph of an infant withthanatophoric dysplasia. Note the large head,narrow thorax due to short ribs, the typical V-shaped clavicles, and the prominent abdomen.Also note the marked flattening of the verte-bral bodies. The ossification centers of the ver-tebrae are reduced.

Figure 2.95. Anteroposterior radiograph ofchest and abdomen in an infant withthanatophoric dysplasia. Note the short ribswhich result in a narrow chest and themarked flattening of the vertebral bodies.The long bones demonstrate the markedshortening and bowing with the cupped irreg-ular flaring of the proximal and distal meta-physes (the telephone receiver sign) whichis especially noted in the femora.

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Figure 2.97. Radiograph of the upper extremities in an infantwith thanatophoric dysplasia. Note the extremely shortenedlong bones with proximal and distal metaphyseal flaring.

Figure 2.98. Radiograph of the lower extremities of thesame infant again demonstrating the marked shortening oflong bones with proximal and distal metaphyseal flaring.

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Figure 2.96. Lateral radiograph of thesame infant showing the marked flat-tening of the vertebral bodies and flatends to the ribs. In an infant withshort-limbed dwarfism, this finding isdiagnostic of thanatophoric dysplasia.

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Chapter 3Non Chromosomal Syndromes,Associations, and SequencesA syndrome, association, sequence, or complex is a constellation of abnormal physical signs, eachnonspecific in isolation but resulting in a mosaic that can be diagnosed with confidence. Thepathogenic mechanisms involved are variable. The clinical presentation depends on the patho-genic mechanism and the time of occurrence. Approximately 2% of all newborn infants have asignificant malformation which may be relatively simple or complex. The later the defect dev-elops in gestation, the more simple the malformation. In 10% of these infants, a chromosomalabnormality can be detected. In approximately 20%, the malformations are based on a singlegene defect, with autosomal dominant disorders predominating. Multifactorial inher

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Atlas of the Newborn Vol 2 - Musculoskeletal Disorders