Stanescu R, Stanescu V, Maroteaux P
Arch Fr Pediatr. 1984 Mar;41(3):185-9.
A case presenting a peculiar type of spondylo-epiphyseal dysplasia was studied. Clinically, the normal height was striking. The X-rays showed large epiphysis and wide metaphysis. Bilateral coxa valga with very large femoral necks was present. The height of the vertebral bodies was slightly reduced. The study of the upper tibial growth cartilage showed glycoprotein inclusions in the chondrocytes and large dilatations of the rough endoplasmic reticulum. The gel electrophoresis of the non collagenous proteins extracted from the growth cartilage had an abnormal densitometric tracing. The type of inheritance of this syndrome is unknown, the patient being an isolated case in a normal family.
研究了一例呈现特殊类型脊椎骨骺发育不良的病例。临床上，身高正常十分显著。X线显示骨骺大且干骺端宽。存在双侧髋外翻且股骨颈非常大。椎体高度略有降低。对胫骨近端生长软骨的研究显示软骨细胞中有糖蛋白包涵体以及粗面内质网的大扩张。从生长软骨中提取的非胶原蛋白的凝胶电泳有异常的光密度扫描图。该综合征的遗传类型未知，该患者是一个正常家庭中的孤立病例。
