Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness

Clinical Features

MacDermot et al. (1987) described a family in which females in 4 successive generations presented with short stature, epiphyseal dysplasia limited to the femoral heads, mild vertebral changes, and sensorineural deafness. Myopia and retinal detachment presenting in adult life was also present in some affected members. Although the disorder had features resembling Stickler syndrome (108300), SED congenita (183900), and some other disorders, MacDermot et al. (1987) thought it was distinct. It may, however, be allelic to either Stickler syndrome or SED congenita. The authors believed it differed from Namaqualand hip dysplasia (604864) because deafness and eye abnormalities are not features of the latter condition. It resembled closely the abnormality of epiphyseal dysplasia limited to the femoral heads, myopia, and deafness (226950) reported as a recessive, but the difference in the mode of inheritance and the normal radiologic appearance of the spine in those cases appears to distinguish them.

Inheritance

The transmission pattern of the disorder in the 4-generation family described by MacDermot et al. (1987) was consistent with autosomal dominant inheritance.