Spondyloepiphyseal Dysplasia Tarda With Mental Retardation

Clinical Features

In 3 daughters of healthy, consanguineous parents, Kohn et al. (1987) described spondyloepiphyseal dysplasia associated with mild to moderate mental retardation. A paternal aunt, married to a first cousin, was said to have a similarly affected offspring. Radiologic studies showed, in addition to an anterior tongue-like protrusion of the lumbar vertebral bodies and platyspondyly, absent dens epistrophei, flared iliac bones ('Mickey Mouse ear-shaped'), and short sacrosciatic notch. Bilateral deformity of the acetabulum with left femoral subluxation and bilateral coxa valga were present. The femoral necks were unusually narrow.

Inheritance

The transmission pattern of SEDT and mental retardation in the family reported by Kohn et al. (1987) was consistent with autosomal recessive inheritance.