Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Golding (1935) and Klenerman (1961) described 2 sons and a daughter, of a first-cousin marriage, who showed short stature, flat vertebrae, and severe hip disease. In the proband, symptoms in the back began at 15 years, followed by symptoms referable to the hips. Multiple loose bodies were removed from various joints of 1 sib--18 from the right hip at about age 26, several from the left elbow at age 28, and 30 from the left hip at age 33. The proband was about 52 years old at the time of Klenerman's report. Severe osteoarthritis of the hips was a feature. The authors suggested a relationship to Morquio-Brailsford chondroosteodystrophy, but this seems doubtful.

Martin et al. (1970) described 2 brothers, offspring of a second-cousin marriage, with platyspondyly, flattening of the metatarsal and metacarpal beads, and symmetrical polyarticular osteoarthritis. No beta-2-globulin was demonstrated in their sera. The patients were natives of the Magdalen Islands in the Gulf of St. Lawrence and many others of that population were found to have either absence or relative deficiency of beta-2-globulin (Martin et al., 1970). Hence, it may represent a separate genetic trait.

Carter and Sutcliffe (1970) pointed out that autosomal dominant, autosomal recessive, and X-linked forms of spondyloepiphyseal dysplasia are known.