一位 8.9 岁的自闭症女孩，患有 Gorlin 综合征。

An 8.9 year old girl with autism and Gorlin syndrome.

机构信息

Department of Child and Adolescent Psychiatry, Catholic University of Leuven, Leuven, Belgium.

出版信息

Eur J Paediatr Neurol. 2011 May;15(3):268-70. doi: 10.1016/j.ejpn.2010.12.001. Epub 2010 Dec 28.

DOI:10.1016/j.ejpn.2010.12.001

PMID:21190878

Abstract

We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed.

摘要

我们报告了一例 8.9 岁的自闭症女孩，伴有巨颅和眼距过宽，手掌有表皮点状皮损，临床疑诊为神经纤维瘤病 1 型（Gorlin 综合征），并通过发现 PTCH1 基因缺失 22 个碱基对而得到分子学证实。探讨了自闭症与 Gorlin 综合征之间的可能关联。