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Case Reports
. 2022 Oct 2;60(10):1074-1076.
doi: 10.3760/cma.j.cn112140-20220406-00291.

[A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation]

[Article in Chinese]
G J Luo  1 , M Hou  1 , A Y Yuan  1 , Q Y Liu  1 , J Chen  1
Affiliations
Case Reports

[A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation]

[Article in Chinese]
G J Luo et al. Zhonghua Er Ke Za Zhi. .

Abstract

患儿 男，5岁，因“仅限少量称谓语表达”于2022年2月就诊于青岛市妇女儿童医院康复科。主要临床表现为重度智力障碍，语言发育迟缓，孤独症行为，脑电图异常放电，头围小，身材矮小和特殊面容。基因检测示CREBBP基因第30号外显子杂合错义变异：c.5120G>A（p.Cys1707Tyr），为新发致病性变异。诊断为Menke-Hennekam综合征1型。.

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