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

Zhonghua Er Ke Za Zhi. 2022 Oct 2;60(10):1074-1076. doi: 10.3760/cma.j.cn112140-20220406-00291.
[Article in Chinese]

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。.

Publication types

  • Case Reports

MeSH terms

  • CREB-Binding Protein / genetics
  • Humans
  • Lymphangiectasis, Intestinal*
  • Rubinstein-Taybi Syndrome* / genetics

Substances

  • CREB-Binding Protein
  • CREBBP protein, human