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Abstract

October - December 2024 | Vol. 17 | Issue 4 | 03-08
Bohring-Opitz Syndrome: Report of a Patient with a Novel Variant in the ASXL1 Gene and Review of Literature
Roopa Kunthavai Chellappa 1, Santhosh Govindarajulu 2, Venkatesh Chellappa 3
1 Department of Orthodontics, Government Thiruvarur Medical College & Hospital, Tamil Nadu, India. 2 Department of Pediatrics, Government Thiruvarur Medical College & Hospital, Tamil Nadu, India. 3 Department of Medical Epidemiology & Biostatistics, Karolinska Institute, Sweden.
Address for Correspondence Email: drroopaa@yahoo.co.in
 
Abstract
Bohring-Opitz Syndrome (BOS) is a very rare genetic disorder with multiple anomalies caused by heterozygous pathogenic variants in the ASXL1 gene. The child reported here had the classic presentation of BOS due to a novel pathogenic variant in the ASXL1 gene.
 
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