MacDonald I M, Hunter A G, MacLeod P M, MacMurray S B
Department of Ophthalmology, Childrens' Hospital of Eastern Ontario, Ottawa, Canada.
Am J Med Genet. 1989 Aug;33(4):508-12. doi: 10.1002/ajmg.1320330420.
Two cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profound developmental delay and dramatic growth failure.
本文报告了两例致死性骨发育不良长期存活的病例，这两名患者在新生儿期因呼吸窘迫开始接受通气支持。两名患者均因脑积水需要进行脑室腹腔分流术，并进行了后颅窝减压。每名患者的病史均以严重发育迟缓及显著生长发育不良为特征。
