1. 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
2. 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.
3. 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
4. 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
5. 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
6. Congenital Rocker bottom Feet
Case #1 Case #2
10 yr male
Plantar flexed talus Congenital vertical talus
7. Case #3 Case #4
Pre op
Stiff subtalar joint second
to subtalar coalition
To your right we have a
calcaneal narvicular coalition
before and after surgical release
Post op
8. Subtalar Coalitions
Young adult with bilateral subtalar Unilateral subtalar
coalitions with incomplete fusion of coalition with complete
sustentaculum tali to the medial facet fusion of the medial
of the os calcis (yellow arrow) facet and sustentaculum
9. 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
10. and cystic changes may be seen near the bowing apex. Healing
in these cases is less of a problem for the treating surgeon.
11. 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
12. 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
13. 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
14. 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.
16. 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
17. Case #2 Reinhardt-Pheiffer Syndrome
1 yr PO
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
18. 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
19. 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
20. 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
21. 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.
22. Case #1 Iliac Horn Syndrome
Severe tibia valgum, iliac horns (arrow),
coxa valgum, cruciate instability, anterior
radial head dislocation and hypoplastic
laterally dislocating patella
23. 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
24. 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 i
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.
26. 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
27. 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
28. 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
29. 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.
30. Arnold-Chiari Syndrome
Young child with a large
myelomenigocele of the LS
spine with paraparesis and
caudal herniation of the
cerebellar tonsils and midbrain
31. 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
32. 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.
33. Case #1 Mongolism-Down’ Syndrome-Trisomy 21
Mentally retarded girl with
epicanthal folds, nystagmus,
puffy lips, hyperelastic joints,
short neck and trisomy 21
34. 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)
35. 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.
36. 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
37. Case #2 Arthrogryposis
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
38. Congenital Absence of Tibia &
Fibula
3 cases of children with
various forms of agenesis
of tibia, fibula and femur
40. Congenital absent sacrum
& Extrophy of Bladder
Infant born with a sacrum Infant born with extrophy of
& severe neurogenic bowel bladder and deficient pubis
and bladder
41. 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
42. 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.
43. 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.
