An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement

A disorder affecting bone and cartilage growth is described in a mother and her 3-year-old son. A dysplastic process involving the vertebral bodies, m ost pronounced in the cervical region and leading to cervical dislocation i n the first of these two patients, is the most significant complication of this disorder. This entity appears unrelated to other previously described skeletal dysplasias with cervical kyphosis as a major manifestation, This d isorder is most likely autosomal dominant. (C) 1999 Wiley-Liss, Inc.