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Pediatr Ra diol (1993) 23:442-445

Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies

A new syndrome?

K. Kozlowski ~, D. Sillence 2, F. Taylor 3

1 Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia 2 Department of Genetics, Royal Alexandra Hospital for Children, Sydney, Australia 3 Department of Orthopaedic Surgery, Royal Alexandra Hospital for Children, Sydney Australia

Received: 23 February 1993/Accepted: 22 March 1993

Pediatric Radiology �9 Springer-Verlag 1993

Abstract. A 12-year-old girl with a s y n d r o m e of shor t s tat- ure, men ta l r e t a r d a t i o n and mul t ip le , d is t inct ive ske le ta l anomal i e s such as c raniosynos tos is , h a m a t e - c a p i t a t e fusion, first r ib gaps, K l ippe l -Fe i l a n o m a l y and S c h e u e r m a n - l ike kyphos i s is r epo r t ed .

on the right thumb and arches on the right index and right fifth fingers. She also had an enlarged clitoris and underdeveloped scro- talized labia. In view of the ambiguous genitalia a vaginogram was performed and this showed almost complete duplication of the inter- nal genitalia with a double uterus. A severe irreducible kyphosis was present in the upper thoracic spine.

A large n u m b e r of synd romes with shor t s ta ture , m e n t a l r e t a r d a t i o n and mu l t i p l e ske le ta l anomal i e s have b e e n re- po r t ed . T h e f inding of c raniosynostos is , h a m a t e - c a p i t a t e fusion, first rib gaps and progress ive Scheue rman- l i ke kyphos is in a 12-year-old occas ioned rev iew of he r new- bo rn and ch i ldhood features . These po in t to a un ique shor t s ta ture , men ta l r e t a rda t ion , mul t ip le ske le ta l anomalies syndrome .

Case report

This child was ascertained at birth as having multiple dysmorphic features. Birth weight at term was 2832 g (10th-25th percentile), head circumference 33.5 cm (10th-50th percentile). The forehead was high and prominent. There was a large posterior fontanelle with a small anteriorly placed anterior fontanelle, The hairline was low posteriorly and the neck short, Ears were low set and shortened in their longitudinal axis with a broad thickened tragus and hypoplastic lobules. Palpebral fissures were short with an anti-mongoloid slant. The palate was high-arched and narrow anteriorly. Both thumbs were proximally placed and showed fixed flexion. Elbow extension was limited. There was bilateral fifth finger clinodactyly and bilateral transverse palmar creases. Chromosomal studies were normal. Parents were unrelated with two previous children who are both well. A thoracic kyphosis was recognized at 12 months of age.

When seen at 12 years of age the girl was cheerful and co-opera- five with mental retardation. She was of short stature with a height of 126.5 cm (3rd percentile), span 116 cm, upper segment/lower segment ratio of 61.5/65 = 0.93 (Fig. 1). There was microbrachycephaly with a low posterior hairline. She had bilateral ptosis with hyperte- lorism, outer canthus 90 mm (75th percentile). The nose was broad and fleshy. Both hands showed many fine small transverse and ob- lique lines on the palmar surface. The dermal prints showed whorls

Correspondence to: Dr. K. Kozlowski, Royal Alexandra Hospital for Children, Camperdown 2050, NSW, Australia

Fig. 1. The patient aged 12 years. Note the bushy hair, thick brows and wide depressed nasal bridge

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Fig. 2 a-d. Radiographs of the newborn patient showing increased bone density. a Large anterior fontanelle. Steep, small anterior cranial fossa. Promi- nent forehead. b Mild hypotubulation of the long bones and minor hypoplasia of the first metacarpal, and middle and distal phalanges. e Small distal femoral epiphyses. Absent tibial epiphyses. d Bell-shaped chest. Thin, shortened ribs

were within normal limits. In the hands the tufts of the distal phalanges were absent and the distal phalanges of the first and second fingers were hypoplastic, as were the middle phalanges of the second and fifth fingers and the first metacarpal. There was coalition of the hamate and capitate, with the remaining metacarpals being small and abnormally shaped. In the feet the changes were less obvious. Pointed distal phalanges and bifid epiphyses of the great toe may be present as normal variants. However, a rhomboid shape of the great toe, quarter-moon-shaped epiphyses of the pointed distal phalanx and small oval-shaped middle phalanges are not encountered in the normal population. Cuneiform I was broader and positioned more anteriorly than usual (Fig. 3).

Discussion

Radiographic fin dings

The skeletal survey performed in the newborn period showed loss of cortico-medullary demarcation in tubular bones with apparently increased density consistent with benign osteosclerosis. The skull showed a round-shaped cranium with prominent forehead, oblit- erated anterior fontanelle and coronal suture and a very large posterior fontanelle. The anterior cranial fossa was small and there were prominent digital markings in the occipital and parietal bones. There was also some hypoplasia of the facial bones. The upper extremities showed proximal shortening of the radius, and hypoplasia of the thumb and of the middle and distal phalanges. The chest was triangu- lar in shape with obliquely positioned, slightly shortened ribs (Fig.2).

The skeletal survey performed at the age of 12 years showed some unique features. There was a "beaten copper" microcephalic skull with fusion of the cranial sutures. In the chest the ribs were ob- lique in position and the first ribs showed gaps. The long bones of the upper extremities were slightly bowed with mild proximal shortening of the radius. In the pelvis, the iliac bones were small and there was spina bifida of the sacrum. In the spine there was fusion of C2 and C3. There was irregularity of the vertebral plates and wedging of the lower thoracic and upper lumbar vertebrae. The middle and upper thoracic vertebrae and lower lumbar vertebrae

This pat ient has a syndrome which includes craniosynostosis and multiple skeletal malformat ions . He r features overlap with known craniosynostosis [1], known microcephal ic osteodysplast ic dwarfism [2, 3] and known short stature syndromes [2, 3], but the spect rum and natural history of the anomalies suggest a unique short s ta ture/mental re tardat ion/mult iple skeletal anomalies syndrome.

Of the acrocephalopolydac ty ly and acrocephalosyn- dactyly syndromes, Carpen te r syndrome [1-3] could be considered, but the absence of polydacty ly and the me- tacarpo-phalangea l anomalies, pelvic changes and kyphosis in this pat ient are not found in Carpen te r syndrome. First rib gaps have been repor ted in partial or mosaic t r isomy 8 [4] and cerebro-cos to-mandibula r syn- d rome [5]. However , no other radiographic changes characterist ic of t r isomy 8 mosaicism such as hypoplast ic patellae, re ta rded bone age or radial head dislocation were present in our patient. Craniosynostosis and carpal fusion are not features of t r isomy 8. Multiple rib in- vo lvement is characteristic of cerebro-cos to-mandibular syndrome [5].

The bony changes superficially resemble hand-foot- uterus syndrome [6], which shows short thumbs, pointed distal phalanges wi thout normal tuft and shor tening of the middle phalanx of the fifth finger. However , the first metacarpal in hand-foot -u terus syndrome is short but of normal d iameter and a p rominen t pseudoepiphysis is usually

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Fig.3a-f. Radiographs of thepatient aged 12 years. a Microcephaly and craniosynostosis with "beaten copper" appearance. Obliteration of intervertebral disc space and fusion of C2 and C3. b Hypoplasia of the tubular bones of the thumb, of the second finger and middle phalanx of the fifth finger. Fusion of the capitate and hamate. The remaining carpal bones are slightly hypoplastic/dysplastic. c Pelvis showing coxa valga with hypoplastic ischial and pubic bones and a wide symphysis pubis. d Thin, obliquely positioned ribs with gaps in the first ribs (arrows). e Bowed radius and humerus. Distal shortening of the ulna. f Large, slightly dysplastic tubular bones of the great toe with pointed distal phalanx and quarter-moon-shaped epiphyses. The middle phalanges are unusual in size and shape, being short and oval

present at the distal end. The wrist changes in hand-foot- uterus syndrome are characterized by trapezium-sca- phoid fusion and accessory os centrale is frequently present. In the feet the cuneiforms are fused to either the navicular or the metatarsals.

Fusion of C2 and C3 is consistent with the diagnosis of Klippel-Feil syndrome. The latter is often associated with a host of other, variable musculo-skeletal, genito-urinary, neurological and cardio-respiratory anomalies or may be a feature of a well-differentiated syndrome: Mayer-Roki- tansky-Kuster-Hauser, Duane syndrome and fetal alcohol

syndrome [2, 3, 7, 8]. The unique constellation of skeletal and genital anomalies with mental retardation as present in our patient has, to the best of our knowledge, never been reported with Klippel-Feil syndrome.

The inheritance of this present syndrome is uncertain. Chromosomal studies were normal. Either a fresh muta- tion or autosomal recessive inheritance must be considered.

References

1. Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, Oxford

2. Buyse ML (1990) Birth defects encyclopedia. Blackwell Scientific, Oxford

3. Taybi H, Lachman RS (1990) Radiology of syndromes, me- tabolic disorders and skeletal dysplasia. Year Book, Chicago London

4. Kozlowski K, Collis J, Suter M, Sillence D (1988) The rib gap anomaly in partial or mosaic trisomy 8. Skeletal Radiol 17: 251- 254

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5. Faure C, Valleur D, Vital JL (1978) Le syndrome cerebro-costo- mandibulaire: trois nouvelles observations. Nouv Presse Med 7: 445-448

6. Poznanski AK (1974) The hand in radiologic diagnosis. Sannders, Philadelphia London Toronto

7. Greenspan A, Cohen J, Szabo RM (1991) Klippel-Feil syndrome: an unusual association with Sprengel deformity, omovertebral bone, and other skeletal, hematologic and respiratory disorders. A case report. Bull Hosp Joint Dis Orthop Inst 51:54-62

8. Strubbe EH et al (1992) Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Kuster-Hauser syndrome. Skele- tal Radio121: 459-462

I Book reviews

Salamon, G., Raynaud, C., Regis, J., Ru- mean, C.: Magnetic resonance imaging of the pediatric brain. An anatomical arias. New York, Raven Press 1990. 364 pp. US $131.50.

This text is in essence an anatomical atlas of the brains of children from birth to 16 years of age. The book is divided into two parts, the first being a brief methodological section de- scribing the technique employed in obtaining the images for the second part, which forms the bulk of the book. All images were obtained on a 1.5T system employing heavily Tlweighted images. In the first section a series of mid sagittal sections, taken over the age span described, are presented with corresponding line diagrams portraying surface anatomy and the orientation for the transverse axial images used in the second part. The sulcal/gyral and commisural development is adequately covered. The second part is laid out formally with axial T1 weighted images displayed with corresponding anno- tated line diagrams on the opposite page.

The quality of the MR images and line diagrams is uniformly good, however despite stating that T2 weighted images were also obtained these were distinguished by their total absence from the text. This is a disap- pointing omission as T2 weighted images more accurately portray the chronology of the different stages of myelinization (as the authors comment themselves).

The stated aim of the authors is to provide the means of recognizing brain structures whatever the age of the child. 2"o this end they have succeded for images obtained in the axial plane. However, MRI is by it's very nature a multiplanar modality, with imaging often obtained in the coronal and sagittal planes during routine scanning. No doubt the size of a text which presented the full anatomy in all three orthogonal planes would be prohibitively large, however there is un-

doubtedly the need for such an atlas. It is a shame that this book provides topographical information in the one plane only.

This atlas is aimed at imaging specialists including 1:hose involved with CT/MRI. PET and SPECT as well as neurophysiologists and paediatricians. No doubt this book will prove a useful bench book for the imaging department however the lack of T2 weighted images and absence or insufficient detail of the anatomy in the coronal and sagittal planes are two major commisions to be borne in mind when considering this book for your own personal collection or departmental li- brary.

T. Jaspan (Nottingham)

Uhthoff, H.K.: The embryology of the human locomotor system. Berlin, Heidelberg, New York: Springer 1990. X, 166 pp., 217 figs. (ISBN3-540-52028-7), hard cover, DM 238.00.

This atlas charts the development of the skeletal system from 4 weeks to 20 weeks gestation. The initial chapters deal with limb bud development, growth of tubular bones and the development of articular cartilage. Thereafter, each chapter is devoted to a section of the skeleton. The material was com- piled from over 350 spontaneous human mis- carriages and the comprehensive text is well illustrated by the mostly excellent photo- micrographs. Muscle development is described superficially and only in its relation to the developing skeleton. The final chapter, entitled Variations and Malformations was, to me, a pathologist, the most interesting and I wished that there had been more along these lines.

I remain unclear about the book's audi- ence. There is much to commend it to Anato- mists and Embryologists, but I am less cer- tain of the appeal to Radiologists, Ortho- paedic Surgeons and Pathologists who would possibly appreciate more clinical applica- tion. J. Zuccolla (Nottingham)

New books

Diagnostic imaging of infants and children. Vol. 1-3. J.R. Sty, R. G. Wells, J.R. Starshak, D.C. Gregg. 1146pp, 1117fig. and tables. Aspen Publ. Inc., Gaithersbury, MD (USA), 1992, US$ 295.00.

The children of atomic bomb survivors. J. V. Neel, W.J. Schull. 518 pp, with figs. National Academy Press, Washington, D C, 1991.

Imaging of children with cancer. M.D. Cohen. 389 pp, 313 figs. and tables. Mosby Year Book, St. Louis, MO, 1992, US$125.00.

Angiography and cholangiography in liver diseases in children. E Brunelle, D. Pariente, P. Chaumont. 160 pp, 266 figs. Springer, Ber- lin Heidelberg New York, 1993, DM 198.00.

Tomografia computerizzata e risonanza magnetica nel bambino. Testo atlante. Il corpo. A.Taccone, M.P. Fondelli, P.Tomh, A.Pelizza. 313pp, 1000figs. Ed. Minerva Medica, Torino (Italy), 1992, L. 150,000.00.

Piidiatrische Ultraschalldiagnostik und Du- plex-Sonographie. Handbuch und Atlas fiir Kfinik und Praxis. E.Leidig, D.Grunert. 468 pp, with figs. Ecomed, Landsberg (Ger- many), 1992, DM 178.00.

Radiologische Skizzen und Tabellen. Hilfe und Handwerkszeug fiir den Alllag. H.W. Heuck, B.R.G. Bast. 450pp, 500figs. Thieme, Stuttgart New York, DM 248.00.

The first 30 years of the ESPR. The history of pediatric radiology in Europe. H.J. Kauf- mann, H.Ringertz, E.Sweet (eds). 124 pp, with figs. Springer, Berlin Heidelberg New York, 1993, DM 48.00.