Borochowitz Z, Jones K L, Silbey R, Adomian G, Lachman R, Rimoin D L
Am J Med Genet. 1986 Sep;25(1):47-59. doi: 10.1002/ajmg.1320250107.
We describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal chondrodysplasia inherited as an autosomal recessive trait. The characteristic radiographic findings consist of flattened, hypoplastic vertebral bodies; short ribs; hypoplastic iliac bones with "a snail-like" configuration; short, broad long-bones with dumbbell-like appearance; short and wide fibula; and precocious ossification of the tarsus. Chondro-osseous histology is characteristic with hypervascularity, increased cellular density, and normal size chondrocytes with a centrally located round nucleus and absence of lacunar space. Because of the snail-like radiographic appearance of the pelvis in this disorder, we propose the name "Schneckenbecken dysplasia" (ie, German for snail pelvis).
我们描述了一种作为常染色体隐性遗传特征的独特的新生儿致死性软骨发育不良的临床、影像学、组织病理学和超微结构特征。其特征性的影像学表现包括椎体扁平、发育不全；肋骨短小；髂骨发育不全呈“蜗牛样”形态；长骨短粗呈哑铃状；腓骨短而宽；跗骨过早骨化。软骨-骨组织学具有特征性，表现为血管增多、细胞密度增加，软骨细胞大小正常，细胞核位于中央呈圆形，无陷窝间隙。由于该疾病中骨盆的影像学表现呈蜗牛样，我们提出将其命名为“Schneckenbecken发育不良”（即德语中蜗牛骨盆的意思）。
