Ho K L, Chang C H, Yang S S, Chason J L
Acta Neuropathol. 1984;63(3):218-28. doi: 10.1007/BF00685248.
Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles. There are no noticeable differences in CNS abnormalities between thanatophoric dysplasia with and without cloverleaf skull (Kleeblattschädel). The CNS abnormalities, likely the result of abnormal neuronal migration and cytoarchitectonic disarrangement, are apparently not caused by skeletal abnormalities. The observation suggests that CNS abnormalities represent a characteristic and distinct manifestation of thanatophoric dysplasia.
对八例致死性骨发育不全（侏儒症）病例的神经病理学研究显示出发育异常，包括后颅窝发育不全、巨脑症、脑回结构紊乱、海马畸形、神经元异位、核发育异常以及异常轴突束。有或没有三叶形头颅（克-布二氏颅骨）的致死性骨发育不全病例在中枢神经系统异常方面没有明显差异。中枢神经系统异常可能是神经元迁移异常和细胞结构紊乱的结果，显然不是由骨骼异常引起的。该观察结果表明，中枢神经系统异常是致死性骨发育不全的一种特征性且独特的表现。
