Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness

Rimoin and McAlister (1971) reported 3 brothers, born of consanguineous Sicilian parents, with an apparently autosomal recessive syndrome of metaphyseal dysplasia, short-limb dwarfism that was more apparent in the lower limbs, mild mental retardation, and conductive hearing loss. All 3 had repeated episodes of otitis media in childhood. Two had hyperopia and strabismus. Hands and feet were short and broad with squared-off nails, and fingers were noted to be markedly loose-jointed in all 3. The major radiographic changes were limited to the metaphyses, which were widened and irregular with broad areas of irregular dense calcification. The ribs were short and widened anteriorly with cupping and irregularity of the costochondral margins. The iliac wings were narrowed with a flattened pelvic inlet. The proximal femoral heads were well ossified but the femoral necks were small, resulting in a varus deformity. The long tubular bones were all markedly shortened. The distal ulnas were shortened and deformed relative to the radii. The lower limbs were bowed with the fibula longer than the tibia. Genu varum was present. The carpal and tarsal bones were small but not greatly deformed. The short tubular bones were all severely shortened with marked epiphyseal-metaphyseal flaring. The phalanges were wide.