期刊
JOURNAL OF DR BEHCET UZ CHILDRENS HOSPITAL
卷 13, 期 1, 页码 70-75出版社
GALENOS PUBL HOUSE
DOI: 10.4274/buchd.galenos.2022.18942
关键词
Craniofacial dysmorphology; arrhinia; eye defects; hypogonadotropic hypogonadism; BOSMA; BAM
This article presents a rare condition called Bosma-Arhinia-Microphthalmia (BAM) syndrome, which is characterized by eye defects, complete absence of nose, and hypogonadotropic hypogonadism. The symptoms and severity of the disorder can vary in different patients, and the majority of reported cases have unknown etiology. The article shares a case report of a female baby born through vaginal delivery with features including midface hypoplasia, nasal aplasia, hypertelorism, and other anomalies associated with BAM syndrome, along with challenges faced during the follow-up period.
Bosma arhinia microphthalmia (BAM) syndrome is a rare condition, characterized with eye defects, complete absence of nose, and hypogonadotropic hypogonadism. The symptoms and severity of disorder can alter from one patient to another. The etiology of the majority of the reported cases has remained unknown. The case report of a female baby, who was born through vaginal delivery with characteristic features of midface hypoplasia, nasal aplasia, hypertelorism and other anomalies related to BAM syndrome and challenges during follow-up period are shared in this article.
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