DIASTROPHIC DYSPLASIA

TIMOTHY P DOMER, D.O., Orthopaedic Resident

WILLIAM MACKENZIE, M.D., Orthopaedic Attending

March 19, 1996

CLINICAL CASE PRESENTATION

ORTHOPAEDIC DEPARTMENT

THE ALFRED I. DUPONT INSTITUTE

WILMINGTON, DELAWARE

CASE HISTORY:

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.

Diastrophic Dysplasia

DISCUSSION:
CLINICAL FEATURES:
RADIOGRAPHIC FEATURES:
TREATMENT OPTIONS:

Cervical kyphosis

Thoracolumbar spinal deformities

Foot deformities

Hip deformity

REFERENCES:
  1. Herring, J.A. The spinal disorders in diastrophic dwarfism. J Bone Joint Surg, 60-A:177, 1978.
  2. Peltonen, J.I., Hoikka, V., Poussa, M., Paavilainen,T., Kaitilia, I. Cementless hip arthroplasty in diastrophic dysplasia. J Arthroplasty, vol. 7 suppl.: 369, 1992.
  3. Hollister, D.W., Lachman, R.S. Diastrophic dwarfism. Clin Orthop 114:61, 1976.
  4. Scott, C.I. Dysplasias of bone and soft tissue. In the Ciba collection of medical illustrations, vol.8, 1990.
  5. Bassett, G.S., Scott, C.I. The osteochonrodysplasias. In Lovell and Winters Pediatric Orthopaedics, 3rd ed., J.B. Lippincott Co., 1990.