Genetics and orofacial clefts: a clinical perspective

Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be multifactorial in origin. Chromosomal and monogenic variants account for the syndromic forms and for some of the non-syndromic inherited forms. Th...

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Detalles Bibliográficos
Autor principal: Kini, Usha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
General
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287552/
https://www.ncbi.nlm.nih.gov/pubmed/37349452
http://dx.doi.org/10.1038/s41415-023-5994-3
Descripción
Sumario:Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be multifactorial in origin. Chromosomal and monogenic variants account for the syndromic forms and for some of the non-syndromic inherited forms. This review discusses the importance of genetic testing and the current clinical strategy to deliver a genomics service that is of direct benefit to patients and their families.

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