Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D
Felsenstein Medical Research Center, Beilinson Medical Center, Petah Tikva, Israel.
Am J Med Genet. 1993 Jun 1;46(4):358-62. doi: 10.1002/ajmg.1320460403.
We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebrae appear squared 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 delay. These patients present a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract.
我们报告了一种在2名同胞及其第二代堂亲中发现的独特类型的脊椎骨骺发育不良，其特征为早发性严重身材矮小、胸部狭小和腹部膨隆。他们颈部短，腰椎前凸严重，由于腓骨过度生长和关节松弛导致明显的膝内翻。影像学检查显示，患者有扁平椎体，最初在生命的头几年被发现，椎体中央发育不全。在稍大年龄时，椎体呈方形，椎弓根轻度变窄。长骨变化在早期类似于软骨发育不全所见，后期包括一般干骺端不规则和明显的骨骺骨化延迟。这些患者呈现出一种以前未描述过的脊椎骨骺发育不良形式，很可能以常染色体隐性方式遗传。
