CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation.

ABSTRACT: BACKGROUND:CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. CASE PRESENTATION:A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. The patient had a long prior history of health and developmental

SUBMITTER: Chetty M 

PROVIDER: S-EPMC7206710 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature