HUWE1基因突变Turner型X连锁智力障碍综合征1例并文献复习

A case of Turner type X-linked mental retardation syndrome with HUWE1 gene mutation and literature review

患儿,男,33 d, 因“发现生长发育迟缓1个月”就诊。患儿系G2P2,孕37+3周,剖宫产分娩,出生体质量2 650 g, 出生史无特殊。生后人工喂养婴幼儿配方奶粉,奶量60~90 ml, 每天10次。3 d前因反复腹胀调整为乳蛋白部分水解奶粉喂养,家长诉生后30 d体质量增长500 g, 生后听力筛查未通过,为进一步治疗入院。父母非近亲结婚,胞兄体健,否认家族性遗传病史。

This paper reported a case of Turner type X-linked mental retardation syndrome with HUWE1 gene mutation, and reviewed the literature.