Mikati-Najjar-Sahli综合征

定义 英文原文（暂无中文）

A rare syndrome with hypergonadotropic hypogonadism characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (including a narrow forehead, synophrys, abnormally folded pinna, and micrognathia). Early teeth loss, gynecomastia, cubitus valgus, genu valgum and cryptorchidism were reported in some patients. There have been no further descriptions in the literature since 1985.

别名

小头畸形-高促性腺素性功能减退症-身材矮小综合征

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接