Literature DB >> 34083042

Orofacial clefts embryology, classification, epidemiology, and genetics.

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.
Copyright © 2021 Elsevier B.V. All rights reserved.

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


  4 in total

1.  Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Authors:  Justyna Dąbrowska; Barbara Biedziak; Anna Szponar-Żurowska; Margareta Budner; Paweł P Jagodziński; Rafał Płoski; Adrianna Mostowska
Journal:  Mol Genet Genomics       Date:  2022-07-01       Impact factor: 2.980

2.  Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.

Authors:  Yu Lan; Rulang Jiang
Journal:  Curr Top Dev Biol       Date:  2022-02-28       Impact factor: 5.242

Review 3.  Analysis of Gene-Environment Interactions Related to Developmental Disorders.

Authors:  Yuhei Nishimura; Kenji Kurosawa
Journal:  Front Pharmacol       Date:  2022-03-17       Impact factor: 5.810

Review 4.  Cleft Palate in Apert Syndrome.

Authors:  Delayna Willie; Greg Holmes; Ethylin Wang Jabs; Meng Wu
Journal:  J Dev Biol       Date:  2022-08-11
  4 in total

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