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

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dc.contributor.authorChetty, Manogarien_ZA
dc.contributor.authorRoberts, Tina Sharonen_ZA
dc.contributor.authorElmubarak, Monaen_ZA
dc.contributor.authorBezuidenhout, Heidreen_ZA
dc.contributor.authorSmit, Lianien_ZA
dc.contributor.authorUrban, Mikeen_ZA
dc.date.accessioned2020-06-02T08:40:06Z
dc.date.available2020-06-02T08:40:06Z
dc.date.issued2020-05-08
dc.date.updated2020-05-10T03:48:28Z
dc.descriptionCITATION: 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.  
dc.descriptionThe original publication is available at https://head-face-med.biomedcentral.com
dc.description.abstractBackground: 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.en
dc.description.urihttps://head-face-med.biomedcentral.com/articles/10.1186/s13005-020-00224-4
dc.description.versionPublisher's version
dc.format.extent7 pages ; photos
dc.identifier.citationChetty, 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  
dc.identifier.issn1746-160X (online)
dc.identifier.otherdoi:10.1186/s13005-020-00224-4  
dc.identifier.urihttp://hdl.handle.net/10019.1/108630
dc.language.isoen_ZAen_ZA
dc.publisherBMC (part of Springer Nature)
dc.rights.holderAuthors retain copyright
dc.subjectCharge syndrome -- Genetic aspectsen_ZA
dc.subjectCharge syndrome -- Patients -- Dental careen_ZA
dc.subjectFace -- Abnormalities -- Patients -- Dental careen_ZA
dc.titleCharge syndrome : genetic aspects and dental challenges, a review and case presentationen_ZA
dc.typeArticleen_ZA
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