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
[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.
万方数据
维普
