A Rare Case Report - Bohring Opitz Syndrome

Nidhi Gupta, Gunjan Kela

Abstract: Bohring- Opitz syndrome (BOS) first described by Bohring et al in 1999, is a rare congenital disorder of unknown etiology. He described 4 cases with characteristic features (1). This syndrome is characterized by distinctive facial features and posture, growth failure, variable intellectual disability, and variable anomalies (2). The diagnosis of BOS is established in a proband with suggestive clinical features and/or identification of constitutional heterozygous pathogenic variant in ACXL1 by molecular genetic testing. We hereby present a case which phenotypically matches the findings of this syndrome.

Keywords: BOS- Bohring opitz syndrome