Volume 24

Congenital Defects (Part 5)

Aperts

Hind foot defects

Tibial pseudarthrosis

Mesomelic dwarfism (Madlung’s)

Misc.

Iliac horn syndrome

Klippel Feil & Sprengel’s deformity

Arnold Chiari syndrome

Mongolism-Down’s Syndrome

Arthrogryposis

Congenital absence of bone

Hand deformities

Congenital genu recurvatum

Acrocephalosyndactyly

(Apert’s Syndrome) Apert’s syndrome is an autosomal dominant disorder identified

at birth because of a failure of suture line formation in the skull

resulting in frontal bossing and a tower skull deformity known

as oxycephali. The cranial stenosis created by the lack of suture

lines results in an increased intracranial pressure that produces

a hammered metal appearance on x-ray and is frequently

associated with mental retardation. Hypoplasia of the facial

bones creates a high arched palate associated with gaping of the

lips. Proptosis and hypertelorism along with drooping of the

outer canthus of the eyes gives a sad facial appearance. Terminal

bone and soft tissue syndactylism creates a rose bud or mitten

hand and foot deformity that requires early surgical correction

to restore good hand function. Likewise the cranial stenosis

requires an early creation of a surgically induced open suture

line known as the strip operation to avoid brain damage.

Case #1 Apert’s Syndrome

Mentally retarded young adult

male with a tower skull, cranial

stenosis with hammered metal

appearance, hypertelorism,

proptosis, drooping lateral canthus,

gaping lips and terminal bone &

soft tissue syndactylism

Case #2 Apert’s Syndrome

Young boy with rose bud hand

deformity from terminal bone

& soft tissue syndactylism along

with frontal bossing drooping

lateral canthuses and open mouth

second to Apert’s syndrome

Case #3 Familial Apert’s Syndrome

A family group of Apert’s

syndrome in an institute for

mentally retarded with

syndactylism of hands and

feet some of which have

already had surgery

10 yr male

Congenital Rocker bottom Feet Case #1 Case #2

Plantar flexed talus Congenital vertical talus

Case #3 Case #4

Stiff subtalar joint second

to subtalar coalition

To your right we have a

calcaneal narvicular coalition

before and after surgical release

Pre op

Post op

Subtalar Coalitions

Young adult with bilateral subtalar

coalitions with incomplete fusion of

sustentaculum tali to the medial facet

of the os calcis (yellow arrow)

Unilateral subtalar

coalition with complete

fusion of the medial

facet and sustentaculum

Congenital or Infantile

Pseudoarthrosis of Tibia

(kyphoscoliotic tibia) This condition develops typically in the first two years of life,

is usually unilateral and may include the adjacent fibula. 85% of

cases start with an anterior bowing of the tibia with a sclerotic

endosteal thickening on the concave side of the curve similar to

that seen in PFFD congenital bowing of the femur which suggests

a common focal mesenchyme deficiency etiology. The bowing

frequently leads to a fracture and pseudoarthrosis that is slow to

heal requiring various complex bone grafting or bone transport

procedures to establish union that may result in significant limb

shortening or even amputation . The 15% that have a posterior

bowing have a better prognosis for healing spontaneously. Nearly

50% of tibial peudoarthroses are associated with neurofibromatosis

in which case the tibia is long and spindly with osteoporosis and

and cystic changes may be seen near the bowing apex. Healing

in these cases is less of a problem for the treating surgeon.

Case #1 Kyphoscoliosis of Tibia

2 year old child with anterior

medial bowing of the tibia &

fibula with dense endosteal

sclerotic thickening of the

concave side of the curve

Case #2 & 3 Infantile Pseudoarthrosis Tibia

2 cases of young children with

Anterior bowing of the tibia that

went on to fracture and pseudarthrosis

the case to right has neurofibromatosis

Mesomelic Dwarfism Mesomelic dwarfism includes a large group of disorders

involving the mid portions of the limb buds that usually stems

from an autosomal dominant inheritance pattern. Refer to the

next slide for a classification of the mesomelic disorders that

involve the radius and ulna of the forearm and the tibia and

fibula of the leg. The milder forms such as dyschondrosteosis are more common and involves a dorsal-lateral bowing of the

radius resulting in a dorsal bulging of the distal ulna referred to

as a Madlung’s deformity. Another mild form of a paraxial

mesomelic dwarfism is the Reinhardt-Pheiffer syndrome

which has a short hypoplastic ulna resulting developmental

posterior-lateral radial head dislocation that becomes noticeable

at age six to eight years. Both of these milder forms can be

unilateral or bilateral and may demonstrate mild dysplastic

changes in the tibia and fibula. The more severe forms include

the Langer and Nievergelt syndromes that demonstrate

extreme shortening of all long bones of the forearm and legs.

Ellis-Van Creveld was included in the physeal disorders as

an achromelic form of dwarfism but is included here because

there is also a mild mesomelic shortening of the forearms and

legs along with a failure of segmentation of the carpal bones

and polydactylism. The Werner syndrome is unique because

of polydactylism and an absent thumb. One might even consider

phocomelia as a form of mesomelic dwarfism that results in a

severe hypoplasia of the entire proximal two thirds of the limb

bud leaving a seal-like flipper hand attached to the shoulder area

which may be brought about with the taking of thalidomide

at the critical fetal age of four to six weeks.

Mesomelic Dwarfism Classification

Case #1 Dyschondrosteosis with Madlung’s Deformity

Teen age boy with classic Madlung’s

deformity of forearm with a dorsal

bulging of the distal ulna resulting

from a shortened and bowed distal

radius

1 yr PO

Case #2 Reinhardt-Pheiffer Syndrome

12 yr boy mesomelic shortening

of both forearms with gradual

posterior lateral dislocation of

both radial heads and capitellar

osteochondritic defect treated

with radial head resections

Case #3 Unilateral Reinhardt-Pheiffer Syndrome

10 yr old female with hypoplastic

shortening of the R ulna & resultant

obliquity of radial head and capitellar

osteochondritic defect treated with

radial head resection

Case #4 Unilaterl Reinhardt-Phieffer Syndrome

13 yr old boy with a unilateral hypoplastic shortening of the

left ulna with secondary deformity of the radial head and

a loose osteochondritic fragment of the capitellum treated

with resection of the radial head and loose fragment

Case #5 Langer Type Mesomelic Dwarfism

Young adult noted to

have very short legs

and forearms as a

young child with

normal hands and

humeral shafts

Osteo-Onychodysostosis

(Iliac Horn Syndrome)

Other names for this condition include the nail hair patella

syndrome, Fong’s disease and Turner’s syndrome. This condition

demonstrates a wide variety of clinical findings stemming from

a generalized collagen and ectodermal defects that are autosomal

dominant in nature. The collagen defect results in an increased

laxity of joints with severe valgus knees and hypoplastic patellae

that dislocate laterally. Acetabular dysplasia is common along

with prominent posterior iliac horn deformities that are noted

in early childhood. Cubitus valgus deformity of elbow frequently

results in radial head dislocation. The ectodermal components

consist of dysplastic nails and spotty alopecia similar to the Ellis-

Van Creveld syndrome. Osteoporosis is a common finding and

renal failure leading to renal osteodystrophy can be a cause of

death at a young age.

Case #1 Iliac Horn Syndrome

Severe tibia valgum, iliac horns (arrow),

coxa valgum, cruciate instability, anterior

radial head dislocation and hypoplastic

laterally dislocating patella

Case #2 Iliac Horn Syndrome

The above child was treated for acetabular dysplasia at age 1 yr

to your left and on your right 11 yrs later one can see the iliac

horns (arrow) and pelvic deformity including arthrokatadesis,

coxa valgum and SI defects all related to osteopenia and

ligamentous laxity

Klippel-Feil Syndrome &

Sprengel’s Deformity Klippel-Feil syndrome is condition that includes a variety of

congenital defects of the cervical spine that gives a clinical picture

of a short neck, low posterior hair line and restricted neck motion

due to blocked vertebrae. The condition is usually present at birth

and not familial. There may be one or multiple blocked vertabrae

(failure of segmentation), hemivertebra, spina bifida, kypho-

scoliosis and spinal stenosis. A congenital defect of the odontoid

such as Os Odontoidium may be seen. Cervical ribs are seen in

15% of cases. Webbing of the neck (pterygium colli) can accentuate

the appearance of a short neck. Sprengel’s Deformity consisting of a unilateral or bilateral elevation of the scapula can

be seen in 25% of cases, and of these 40% will have an omo-

vertebral bone connecting the scapula to the upper posterior spine

which can be formed by fibrocartilaginous tissue instead of bone.

Other anomalies include possible septal heart defects and renal

anomalies.

Case #1 Klippel-Feil Syndrome

Young boy with short stiff neck with pterygium colli & low set

ears with extra cervical rib on R with scoliosis, hemivertebra,

failure of segmentation & spina bifida

Case #2 Unilateral Sprengel’s Deformity

8 yr old child with undescented L

scapula with omovertebral bone

attaching scapula to posterior C-5

seen by arrow and photo of the

resected bone to right

Case #3 Os Odontoidium in Klippel-Feil

extension

14 yr male with failure of segmentation of several cervical

vertebra along with un-united ossification center for dens

(os odontoidium) arrow with instability in extension

Arnold-Chiari Syndrome

& Diastematomyelia

The Chiari II or Arnold-Chiari syndorme is a spinal cord

malformation associated with a myelomengocele and caudal

displacement of the cerebellar tonsils and mid brain. The myelo-

menigocele may result in a neurogenic bowel and bladder along

with a paraparesis of the lower extremities. Intrathecal lipomas

may be seen in the area of the posterior element defect of the

lumbosacral spine.

Diastematomyelia is another spinal cord malformation

resulting from a failure of closure of the neural tube during

fetal growth associated with a localized partial duplication of

the spinal cord with widening of the pedicles and in some cases

a bony spicule will be seen by x-ray at the spinal cord bifurcation.

As in the Chiari syndrome one may find lipomatous changes in

the area of the filum terminale.

Arnold-Chiari Syndrome

Young child with a large

myelomenigocele of the LS

spine with paraparesis and

caudal herniation of the

cerebellar tonsils and midbrain

Diastematomyelia

Young adult male with a

slight scoliosis, mild paraesis,

widening of the pedicles at

lumbodorsal juncture and a

spicule of bone seen by arrow

at the T-9 level

Mongolism (Trisomy 21)

(Down’s Syndrome)

95% of Down’s syndrome patients possess an extra chromosome

designated #21. The condition is more common in older parents.

The defects are noted at birth and include ocular anomalies such

as oblique fissures, epicanthal folds, cataracts, Brushfield spots

(white flakes on iris), nystagmus and strabismus. Other problems

include hypotonia, brachacephaly, mental retardation, large

tongue with puffy lips and hyperelasticity. 40% have hip

dysplasia. Radiographic findings include flared iliac wings, hypo-

plasia of the middle phalanx of the little finger associated with

a flexion contracture (clinodactyly), short hand bones, micro-

cephaly and high arched palates. Ligamentous laxity can cause

C1-2 instability with cord compromise.

Case #1 Mongolism-Down’ Syndrome-Trisomy 21

Mentally retarded girl with

epicanthal folds, nystagmus,

puffy lips, hyperelastic joints,

short neck and trisomy 21

Hand seen at age 8 yrs with a hypoplastic middle phalanx

of little finger and flexion contracture (clinodactyly) along

with a single transverse palmar crease (simian line)

Arthrogryposis Multiplex Congenita

(Amyoplasia Congenita)

This condition is noted at birth and consists of severe flexion or

extension contractures of major joints including the spine that

seems to result from a myopathic or neurogenic intra uterine

process instead of a true arthrosis as the name arthrogryposis

would suggest. Early radiographic studies show a lack of muscle

volume but instead we find fibrous bands and fat tissue where

muscle should be seen. The actual joints appear normal but are

stiff because of muscle rigidity. The bones are osteoporotic from

disuse and fracture easily. Hip dislocations are common. Intrinsic

plus deformities are seen in the hands and equinovarus resistant

club feet may be seen. Soft tissue releases for contractures are

not helpful but instead repeated corrective osteotomies are

required during the growing years.

Case #1 Arthrogryposis

Teen aged girl with stiff joints and

flexion contracture of elbows, hips

& knees with webbing of skin at

elbow with radial head dislocation

& intrinsic plus stiffness of the hands

Case #2

Young child with only fibrous

bands for muscle in fatty tissue

with severe flexion contractures

and webbing of skin over

osteoporotic spindly bones &

normal macro section of elbow

Arthrogryposis

Congenital Absence of Tibia &

Fibula

3 cases of children with

various forms of agenesis

of tibia, fibula and femur

Congenital Amelia

Child born without any limbs

with only the clavicle and

scapula noted on x-ray

Congenital absent sacrum

& Extrophy of Bladder

Infant born with a sacrum

& severe neurogenic bowel

and bladder

Infant born with extrophy of

bladder and deficient pubis

Lobster Claw Hand & Foot

7 yr girl born with a very rare symmetric deformity of both hands

& feet with absent middle ray in the hand and middle three rays

of the foot. Note absence of phalanges of ring finger and

syndactylism of the thumb and index finger. Surgical treatment

is usually not indicated because of excellent function

Congenital Bifid Thumb

Common form of polydactylism of the terminal portions of

the thumb in an adult to your left and infant to your right.

Surgical correction if any involves amputation of the none

dominant member of the pair.

Congenital Hyperextension

Deformity of the Knees

Infant born with genu recurvatum which may be associated with

club feet, tight IT bands, hypoplastic patella & subluxation of

knee 2nd to laxity of the posterior capsule and cruciate ligaments

which can usually be corrected with early serial castings in flexion.