NEW FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) IN JEWISH FAMILY OF IRAQI ORIGIN

We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe sh ort stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowt h and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasi a of the vertebral bodies. At a later age, the vertebrae appear square d with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification de lay. These patients present a previously undescribed form of spondyloe pimetaphyseal dysplasia, most probably transmitted as an autosomal rec essive tract.