A Newborn with Arhinia: Suspected BAM Syndrome

Abstract

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.

Keywords

• craniofacial dysmorphology
• arrhinia
• eye defects
• hypogonadotropic hypogonadism
• bosma
• bam