Tanaka T, Nishikawa A, Yamaguchi S, Taguchi T, Sugie S, Shima H, Fujii M, Mori H, Takahashi M
Acta Pathol Jpn. 1984 Mar;34(2):389-98. doi: 10.1111/j.1440-1827.1984.tb07566.x.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric dysplasia is considered with a survey of the literature.
本文描述了两例男性新生儿致死性骨发育不全的尸检病例。他们有明显的短肢和狭窄的胸廓。组织学上，在股骨骨骺区域可见软骨内成骨的广泛破坏，而静止软骨正常。文中描述了与其他3种致死性软骨发育不良的鉴别诊断，并通过文献综述探讨了致死性骨发育不全的组织发生。
