Charge syndrome : genetic aspects and dental challenges, a review and case presentation
Date
2020-05-08
Journal Title
Journal ISSN
Volume Title
Publisher
BMC (part of Springer Nature)
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 problems, with the correct diagnosis becoming
apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist
including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and
compromised sensory perception. The treatment was mainly preventive and, although she fed through a
percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated.
Conclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist
multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care,
and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and
craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the
management of individuals with CS.
Description
CITATION: Chetty, M., et al. 2020. CHARGE syndrome : genetic aspects and dental challenges, a review and case presentation. Head and Face Medicine, 16:10, doi:10.1186/s13005-020-00224-4.
The original publication is available at https://head-face-med.biomedcentral.com
The original publication is available at https://head-face-med.biomedcentral.com
Keywords
Charge syndrome -- Genetic aspects, Charge syndrome -- Patients -- Dental care, Face -- Abnormalities -- Patients -- Dental care
Citation
Chetty, M., et al. 2020. CHARGE syndrome : genetic aspects and dental challenges, a review and case presentation. Head and Face Medicine, 16:10, doi:10.1186/s13005-020-00224-4