胼胝体发育不全综合征：1例新病例
Acrocallosal syndrome: a new case.
作者信息
Lungarotti M S, Marinelli D, Mezzetti D, Caputo N, Calabro A
机构信息
Istituto di Pediatria, Università di Perugia, Italy.
出版信息
Am J Med Genet. 1991 Jul 1;40(1):94-6. doi: 10.1002/ajmg.1320400119.
PMID:1887856
Abstract
We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.
摘要
我们描述了一名2个月大的女婴，她具有典型的胼胝体发育不全综合征临床表现：特征性面容、胼胝体缺如、多指畸形伴其他肢体异常以及智力发育迟缓。基于该综合征家族病例的描述，强调了正确分类学和遗传咨询的重要性。
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