一种罕见类型的尖头并指畸形，伴有双侧顶枕部“脑膨出”、小阴茎和严重智力障碍。
An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.
作者信息
Lorenz P, Rupprecht E, Tellkamp H
机构信息
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
出版信息
Am J Med Genet. 1990 Jul;36(3):265-8. doi: 10.1002/ajmg.1320360302.
PMID:2363419
Abstract
Here we report on a 2 year 3-month-old boy with acrocephalosyndactyly, a bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.
摘要
在此，我们报告一名2岁3个月大的男孩，患有尖头并指畸形、双侧顶枕部“脑膨出”、小阴茎和严重智力发育迟缓。据我们所知，文献中没有其他关于类似患病患者的报道。
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