Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

LE Figuera, ML Ramírez‐Dueñas… - American journal of …, 1994 - Wiley Online Library
LE Figuera, ML Ramírez‐Dueñas, MP Gallegos‐Arreola, JM Cantú
American journal of medical genetics, 1994Wiley Online Library
Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three
members of a Jewish family. We present a 3.5‐year‐old Mexican boy with disproportionate
short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis,
short limbs, marked genuavara, and joint laxity. Roentgenologic findings include short long
bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification,
platyspondyly and morphological changes of vertebral bodies and fibular overgrowth. The …
Abstract
Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5‐year‐old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genuavara, and joint laxity. Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes of vertebral 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. © 1994 Wiley‐Liss, Inc.
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