SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) SHOHAT TYPE

Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was report ed in three members of a Jewish family. We present a 3.5-year-old Mexi can boy with disproportionate short stature, peculiar face, short neck , small chest, abdominal distension, lumbar lordosis, short limbs, mar ked genua vara, and joint laxity. Roentgenologic findings include shor t long bones, wide and hared metaphyses with irregularities, delayed e piphyseal ossification, platyspondyly and morphological changes of ver tebral bodies and fibular overgrowth. The striking resemblance of this patient to those previously reported confirms this form of SEMD as a distinct entity. Autosomal recessive inheritance is supported and the designation SEMD Shohat type is proposed. (C) 1994 Wiley-Liss, Inc.