Abstract：
Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1 gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in SMCHD1 gene (c.1418A>T; p.Glu473Val) presenting hemiarhinia associated with short stature and hypogonadotropic hypogonadism. Due to the clinical variability of BAMS, we considered that hemiarhinia, without microphthalmia, in the present case, can be considered a mild form of BAMS and could be considered for screening of SMCHD1 gene variation.
摘要：
Bosmaarhinia小眼症综合征（BAMS，OMIM#603457)是由染色体18p11上的SMCHD1基因杂合变异所惹起的一种罕见的常染色体显性遗传病。临床上,它的特点是小眼症，鼻子缺失或发育不全，后鼻孔闭锁,嗅觉缺失,腭畸形,低促性腺激素性性腺功能减退,和隐睾。在这里，我们报告了一名巴西患者，该患者的SMCHD1基因可能存在致病性变异（c.1418A>T;p.Glu473Val），表现出与身材矮小和低促性腺激素性性腺功能减退相关的半芥蒂。由于BAMS的临床变异性，我们考虑到了hemiarhinia,没有小眼症，在目前的情况下,可以认为是BAMS的轻度形式，可以考虑用于SMCHD1基因变异的筛选。
