| Literature DB >> 34083042 |
Ghenwa Nasreddine1, Joelle El Hajj2, Michella Ghassibe-Sabbagh3.
Abstract
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations. They are classified as cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). OFCs have significant psychological and socio-economic impact on patients and their families and require a multidisciplinary approach for management and counseling. A complex interaction between genetic and environmental factors contributes to the incidence and clinical presentation of OFCs. In this comprehensive review, the embryology, classification, epidemiology and etiology of clefts are thoroughly discussed and a "state-of-the-art" snapshot of the recent advances in the genetics of OFCs is presented.Entities:
Keywords: Cleft lip/palate (CL/P); Cleft palate only (CPO); Genome-wide association studies (GWAS); Lip and palate development; Orofacial clefts (OFCs); Whole exome sequencing (WES)
Year: 2021 PMID: 34083042 DOI: 10.1016/j.mrrev.2021.108373
Source DB: PubMed Journal: Mutat Res ISSN: 0027-5107 Impact factor: 2.433