Stickler syndrome.

Abstract

Stickler syndrome is an autosomal-dominant disorder of connective tissue characterized by skeletal, orofacial, and ocular abnormalities. The most common specific roentgenographic findings include coxa valga and widening of the femoral neck. Acetabular protrusio, chondrolysis, avascular necrosis, and vertebral changes have also been described. Premature arthritic changes are to be expected. Congenital myopia and micrognathia are the most common nonskeletal findings. This syndrome should be considered when patients have unexplained coxa valga, especially with concomitant acetabular protrusio.