Sato D, Hosokawa Y, Nakamura Y, Mukae T, Nakashima T, Komatsu Y, Kabashima S
Acta Pathol Jpn. 1981 Sep;31(5):895-902. doi: 10.1111/j.1440-1827.1981.tb02814.x.
The autopsy cases of thanatophoric dysplasia of identical female twins were reported. These babies showed short limbs, long and narrow thoraxes, and depressed nasal roots. Disorganization of endochondral ossification and hypertrophic periosteum were recognized histologically at the epiphyseal plate of femur. The cause of death was respiratory distress caused by hypoplastic and atelectatic lungs. Their mother had no complaints except hydramnios. Female identical twins of this disease are very rare. It could be considered that the disease would be induced by some genetic disorders occurring at the earliest developmental stage.
报道了同卵双胞胎女性致死性骨发育不全的尸检病例。这些婴儿表现为四肢短小、胸廓狭长以及鼻根凹陷。组织学检查发现股骨骨骺板处软骨内成骨紊乱和骨膜肥厚。死亡原因是肺发育不全和肺不张导致的呼吸窘迫。除羊水过多外，她们的母亲无其他不适。这种疾病的同卵双胞胎女性非常罕见。可以认为该疾病是由最早发育阶段发生的某些基因紊乱引起的。
