Figuera L E, Ramírez-Dueñas M L, Gallegos-Arreola M P, Cantú J M
División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, México.
Am J Med Genet. 1994 Jul 1;51(3):213-5. doi: 10.1002/ajmg.1320510307.
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 genua vara, 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.
最近，在一个犹太家庭的三名成员中报告了一种独特的脊椎骨骺发育不良（SEMD）。我们报告一名3.5岁的墨西哥男孩，其身材不成比例地矮小，面容奇特，颈部短，胸部小，腹胀，腰椎前凸，四肢短小，明显膝内翻，关节松弛。X线表现包括长骨短小，干骺端增宽且呈喇叭状伴不规则，骨骺骨化延迟，椎体扁平以及椎体和腓骨过度生长的形态改变。该患者与先前报道的患者极为相似，证实了这种形式的SEMD是一种独特的疾病。支持常染色体隐性遗传，并提出将其命名为SEMD Shohat型。
