Moerman P, Barth P G
Virchows Arch A Pathol Anat Histopathol. 1987;410(4):339-45. doi: 10.1007/BF00711290.
The clinical and pathological features of a female neonate with congenital joint contractures and pulmonary hypoplasia are described. Neuropathological examination revealed a widespread neuronal degeneration with a predominantly olivo-ponto-cerebellar distribution and muscle pathology consistent with neurogenic atrophy. This is the first reported case of congenital joint contractures and pulmonary hypoplasia with pathologically documented olivo-ponto-cerebellar degeneration. The observation further illustrates that the so-called fetal akinesia sequence or Pena-Shokeir I syndrome is an aetiologically non-specific symptom complex that can be caused by a number of underlying mechanisms.
本文描述了一名患有先天性关节挛缩和肺发育不全的女性新生儿的临床和病理特征。神经病理学检查发现广泛的神经元变性，主要分布在橄榄脑桥小脑，肌肉病理学表现与神经源性萎缩一致。这是首例有病理记录的先天性关节挛缩和肺发育不全合并橄榄脑桥小脑变性的病例。该观察结果进一步表明，所谓的胎儿运动减少序列或佩纳 - 绍凯尔I综合征是一种病因非特异性的症状复合体，可由多种潜在机制引起。
