简短报告：胼胝体发育不全综合征与自闭症。

Brief report: acrocallosal syndrome and autism.

作者信息

Steiner Carlos Eduardo, Guerreiro Marilisa Mantovani, Marques-de-Faria Antonia Paula

机构信息

Department of Medical Genetics, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.

出版信息

J Autism Dev Disord. 2004 Dec;34(6):723-6. doi: 10.1007/s10803-004-5292-0.

DOI:10.1007/s10803-004-5292-0

PMID:15679191

Abstract

The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other associated conditions in autism may be coincidental or reveal new clues to the understanding of autism as a behavioral syndrome.

摘要

作者描述了一名患有顶体发育不全综合征和自闭症的男孩。临床特征包括颅面畸形、多指畸形和智力迟钝，此外还有与自闭症相符的行为症状。神经影像学检查显示胼胝体发育不全和小脑异常。这种病症及其他相关病症在自闭症中的作用可能是巧合，也可能为理解自闭症这种行为综合征揭示新的线索。