Thanatophoric Dysplasia

T Tanaka,A Nishikawa, S Yamaguchi, T Taguchi, S Sugie, H Shima,M Fujii,H Mori, M Takahashi

Acta pathologica japonica（1984）

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摘要

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.

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