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胼胝体发育不全的X连锁隐性遗传。

X linked recessive inheritance of agenesis of the corpus callosum.

作者信息

Kaplan P

出版信息

J Med Genet. 1983 Apr;20(2):122-4. doi: 10.1136/jmg.20.2.122.

DOI:10.1136/jmg.20.2.122
PMID:6682447
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049013/
Abstract

A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, also has agenesis of the corpus callosum demonstrated by CT scan. The implications for antenatal diagnosis are discussed.

摘要

报告了一名2岁男孩，患有精神运动发育迟缓、先天性单侧上睑下垂、双侧拇指内收、上肢无力和先天性巨结肠（无神经节症），伴有胼胝体完全缺如以及小脑蚓部和小脑发育不全。他24岁的舅舅有严重的精神运动发育迟缓，但无其他身体问题，CT扫描也显示有胼胝体缺如。文中讨论了对产前诊断的意义。