Spondylo-camptodactyly syndrome: a distinct autosomal dominant entity?

We present a family in which five members over three generations have a syndrome characterized by camptodactyly, flattened bodies of cervical vertebrae, and a variable degree of thoracic scoliosis. After excluding other camptodactyly syndromes, it was concluded that this association of anomalies probably represents a new autosomal dominant syndrome.