The Campomelic Syndrome

Abstract

The radiographic and clinical findings of the campomelic syndrome are described. Radiographically, it is characterized by bony and cartilaginous growth disturbances manifested by bowing of the femurs and tibiae, hypoplasia of the vertebral bodies, scapulae, and pelvis, and dislocation of the hips, knees, and elbows. These findings clearly differentiate this entity from other short-limbed dwarfisms. Clinically, these infants are short-limbed with tibial and femoral bowing, with dimpling over the tibial bow. Generally there is cleft palate, macrocephaly, hypertelorism, micrognathia, hypotonia, and laryngotracheal malacia. Most patients with this syndrome die in infancy, usually of respiratory disorders.