Musculoskeletal ImagingCamptomelic dysplasia
an inherited disease that is usually fatal in infancy and characterized by a large head, short trunk and short limbs. Inheritance is probably autosomal recessive.
Radiographically the limbs, particularly the legs, show anterolateral bowing, and the chest is bell-shaped. Other features of this disorder are club feet, joint contractures, small hands and a short neck. Thin, wavy ribs, slender clavicles and a narrow trachea may also be seen. In the pelvis, the ala of the sacrum may be absent, and the patient may exhibit narrow iliac bones, acetabular hypoplasia, poor pubic ossification, and widely separated, short ischial bones. Also characteristic are hip dislocation and vertebral anomalies.
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