AMME chromosomal region gene 1基因变异矮小相关综合征一例及文献复习

A case report of short stature and hypoplasia in the middle face caused by AMME chromosomal region gene 1 new gene mutation and literature review

目的探讨1例身材矮小、面中部发育不全患儿的病因,以提高临床医师对特殊矮小综合征的认识。方法收集1例身材矮小、面中部发育不全患儿的临床资料,对患儿及父母行基因检测,并给予患儿常规治疗、随访。结果结合患儿特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征,结合文献复习总结AMMECR1基因变异矮小相关综合征特点。结论AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,临床主要表现为身材矮小、运动语言落后、肌张力减低、听力损失、面中部发育不全,部分存在心脏改变、腭裂、骨骼改变及椭圆形红细胞增多症、智力落后和肾钙质沉着症。该文报道1例AMMECR1基因新变异引起身材矮小、面中部发育不全患儿的病例资料,结合特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征。AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,本文初步概括其特点,并结合文献进行分析,以提高临床医师对AMMECR1基因变异矮小相关综合征的诊治。

【Objective】To investigate the etiology of a child with short stature and midfacial hypoplasia,to improve the awareness of special short stature syndrome.【Methods】Clinical data of a child with short stature and middle plasia were collected,the child and his parents were performed genetic testing,and the child recieved routine treatment and follow-up.【Results】Based on the special face and genetic testing of the child,the syndrome was diagnosed as AMMECR1 gene variant short stature syndrome,and the characteristics of AMMECR1 gene variant short stature syndrome were summarized.【Conclusion】AMMECR1 gene variant short related syndrome is a rare X-linked genetic disease,the clinical main performance is short stature,underdeveloped sports language,decreased muscle tone,hearing loss,middle facial dysplasia,some heart changes,cleft palate,bone changes and oval erycytosis,mental retardation and nephrocalcinosis.