Campomelic dysplasia

Olya Polishchuk

Andrew Poznanski, M.D.

Children's Memorial Hospital

Abstract

child with bowed legs

Keywords

campomelic dysplasia, tibial bowing, cervical spine kyphosis, hypoplastic scapula, pelvic abnormality, plain film skdysplasia 310


Publication Date: 2004-05-19

History

child with bowed legs

Findings

Lower Extremities: Anteriorly bowed tibias. Ischia diverge inferiorly. Bowed femora. Hypoplastic fibulas.

Shows the diverging ischia in campomelic as compared to normal.

Chest: Hypoplastic scapulae. Thin ribs.

Cervical Spine (different patient): Kyphotic deformity.

Photo of leg: There is acute bowing of the tibia.

Diagnosis

Campomelic dysplasia

Differential

There are many syndromes with bowed femora and tibias. The distinctive features in campomelic dysplasia are the ischial divergence and hypoplastic scapulae which are not present in the other entities.

In Stuve-Wiedermann syndrome the limbs are shorter and the other major manifestations of campomelic dysplasia are absent. In Antley-Bixler syndrome, the femora are bowed and the iliac bones have a vertical configuration in common with campomelic. Diastophic dysplasia and Larsen syndrome, hypoplastic cervical vertebrae, cervical kyphosis, joint dislocation, and abnormalities of tracheal cartilage are features in common with campomelic dysplasia. Anterior bowing of the tibia can occur in neurofibromatosis type I.

Discussion

Campomelic dysplasia is an autosomal dominant disorder. At birth children present with bowing of femora and tibiae, pretibial skin dimples, respiratory insufficientcy, micrognathia, dolichocephaly, cleft palate, flat nasal bridge, long philtrum, dislocated hips, club feet, and sex reversal in most chromosomal males.

Major radiologic features include: bowed femora and tibiae, hypoplastic scapulae, vertical narrow iliac wings, widely spaced vertical ischia, hypoplastic pubic bones, dislocated hips, hypoplatic thoracic vertebral pedicles, cervical vertebrae, and mandible.

Children with Campomelic dysplasia usually die during the newborn period due to respiratory insufficiency. Survivors may develop progressive kyphoscoliosis. Some survivors have been retarded and others have normal intelligence.

References

  1. Spranger, J., Brill, P., Poznanski, A., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 41.

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