Spondylocamptodactyly

Clinical Features

Lizcano-Gil et al. (1995) reported a family in which 5 members in 3 generations had camptodactyly (see 114200) in association with flattened cervical vertebral bodies and scoliosis. They suggested that the inheritance was autosomal dominant; however, the 3 affected females in the third generation were the products of a consanguineous marriage. The possibility of earlier consanguinity makes autosomal recessive inheritance with pseudodominance a possibility.