TIMOTHY P DOMER, D.O., Orthopaedic Resident
WILLIAM MACKENZIE, M.D., Orthopaedic Attending
March 19, 1996
CLINICAL CASE PRESENTATION
THE ALFRED I. DUPONT INSTITUTE
A 9-year-old female was originally evaluated in early infancy for disproportionate
short stature. The disproportionate stature was of the short limb type.
The head had normal configuration. There was a normal distribution of the
hair. The ears were thickened and inflamed. Epicanthic folds were not present.
The nose was broad at the root as well as in the mid-bridge. There was
clefting of the first part of the palate. The neck had a normal ROM and
the nuchal hairline was not low set. There were no heart defects on auscultation.
The nails appeared normal. The thumbs bilaterally were in an abducted position.
There were bilateral hip and knee flexion contractures. The feet demonstrated
a rigid equinus position. She presented at 13-months with an unstable kyphosis
of the cervical spine that required posterior spinal fusion from C2 to
C7. At 5-years of age she required posterior spinal fusion from T2 to T7
with instrumentation for progressive thoracic scoliosis and bilateral distal
tibial osteotomies for equinus contractures of the ankles. At her most
recent follow-up at age 9, she presented with increasing hip and knee flexion
contractures that altered her gait, the equinus contractures of her ankles
had returned and were very rigid. She underwent extension osteotomies of
the proximal and distal femurs and supramalleolar osteotomies to correct
the equinus position of the ankles.
- a rare type of skeletal dysplasia characterized by extreme short-limb
- typically have severe spinal deformities with characteristic hand,
foot, and ear abnormalities
- transmitted as an autosomal recessive trait, so that parents that conceive
a child with the disorder will have a 25% chance of having another child
with the disorder with each subsequent pregnancy
- extreme short stature, adult height ranges from 34 to 48 inches
- characteristic facies with narrow root and broad mid-nose, square jaw,
prominent area around the mouth, long and full face with broad forehead
- abnormalities of the palate are 50% and include complete, partial or
submucous clefts, bifid uvula, or double uvula with a median longitudinal
- initially is swelling of the ears with calcification which later develops
into a 'cauliflower' ear deformity in 80% of the cases
- there is rhizomelic shortening of the limbs
- the hallmark hand deformity is the abducted position of the thumb created
by the shortened first metacarpal and termed the 'hitchhiker thumb'
- the fingers are short and broad with the presence of symphalangism
- Kyphosis and scoliosis may occur in the spine, with severe cervical
kyphosis having the potential to cause neurologic problems
- the feet demonstrate rigid bilateral equinovarus deformities that are
extremely resistant to casting
- have normal intelligence
- vertebral bodies show minimal irregularities
- progressive kyphoscoliosis may eventually cause wedging of the vertebral
- there is an 80% occurrence of scoliosis, kyphosis, or kyphoscoliosis
of the thoracic or thoracolumbar spines
- increased lumbar lordosis
- interpedicular distance may narrow at the 4th or 5th lumbar levels
- cervical kyphosis is common, with atlantoaxial instability extremely
- the bones are short, broad and with flared metaphyses
- epiphysis is delayed and irregular and become distorted
- epiphyseal- metaphseal regions are expanded
- the bones of the feet and hands are broad
- hip dislocation or osteoarthritis secondary to joint incongruity is
- no instability in a neurologically normal child-- observation or bracing
- progression of the kyphosis-- bracing ( Milwaukee brace )
- no improvement with bracing or neurologic compromise present
- without neurologic involvement-- posterior spinal fusion with halo-vest
- with neurologic involvement-- anterior decompression and fusion with
posterior spinal fusion
Thoracolumbar spinal deformities
- bracing is recommrnended early with Milwaukee bracing, although curve
progression is common
- kyphosis greater than 50 degrees may require anterior fusion in conjunction
with posterior fusion
- may have variable hindfoot and forefoot abnormalities
- are usually very rigid and resistant to cast treatment
- plantigrade position of the foot may be obtained by talectomy or supramalleolar
- goal is to obtain functional ROM at the hip and knee, which may require
extensive soft tissue releases
- osteotomies to correct severe contractures to improve walking ability
- total hip arthroplasty for severe hip dysplasia
- Herring, J.A. The spinal disorders in diastrophic dwarfism. J Bone
Joint Surg, 60-A:177, 1978.
- Peltonen, J.I., Hoikka, V., Poussa, M., Paavilainen,T., Kaitilia, I.
Cementless hip arthroplasty in diastrophic dysplasia. J Arthroplasty, vol.
7 suppl.: 369, 1992.
- Hollister, D.W., Lachman, R.S. Diastrophic dwarfism. Clin Orthop 114:61,
- Scott, C.I. Dysplasias of bone and soft tissue. In the Ciba collection
of medical illustrations, vol.8, 1990.
- Bassett, G.S., Scott, C.I. The osteochonrodysplasias. In Lovell and
Winters Pediatric Orthopaedics, 3rd ed., J.B. Lippincott Co., 1990.