Publication:

Bohring opitz syndrome: a rare case report

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. This syndrome is characterized by distinctive facial features and posture, growth failure, variable intellectual disability, and variable anomalies. The diagnosis of BOS is established in a proband with suggestive clinical features and/or Identification of constitutional heterozygous pathogenic variant in ASXL1 by molecular genetic testing. We presented a case which phenotypically and genetically matches the findings of this syndrome.