[NECRC syndrome caused by ZMYM2 gene variation in 2 cases]

Zhonghua Er Ke Za Zhi. 2024 Nov 2;62(11):1116-1118. doi: 10.3760/cma.j.cn112140-20240619-00410.
[Article in Chinese]

Abstract

2例患儿均因生长迟缓入院,且合并先天性泌尿道畸形,其中1例患儿存在特殊面容、语言及运动发育落后,基因检测提示这两例患儿均携带有ZMYM2基因杂合变异,结合患儿的临床表现及遗传学信息,临床诊断为“伴有不同程度的肾脏和心脏异常的神经发育-颅面综合征”,现生长激素治疗并于门诊定期随诊中。.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mutation