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Genetics of Cleft Lip and Cleft Palate: Perspectives in Surgery Management and Outcome

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Abstract

Clefts of the lip (with or without palate) and of the palate (CLP) comprise a complex, clinically, and etiologically heterogeneous group of craniofacial malformations that affect around 1:700 live births (Dixon et al. 2011). Expressivity varies from mild defects, such as discreet orbicularis oris muscle discontinuity and submucous cleft palate, to more severe phenotypes in which several orofacial tissues are affected. Patients afflicted by CLP often require extensive treatment for their functional rehabilitation and social integration, as they are subject to several surgical interventions and management by a multidisciplinary team for many years (Hamm and Robin 2015). Given the high incidence of CLP and the important psychosocial and health care burden it entails, understanding the etiology of this disorder is of utmost importance, as it may lead to the development or improvement of preventive and therapeutic strategies.

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Acknowledgements

Authors were financed by FAPESP/CEPID.

Online resources: OMIM (Online Mendelian Inheritance in Man): http://www.omim.org/.

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Correspondence to Maria Rita Passos-Bueno Ph.D. .

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Kobayashi, G.S., Brito, L.A., Meira, J.G.C., Alvizi, L., Passos-Bueno, M.R. (2018). Genetics of Cleft Lip and Cleft Palate: Perspectives in Surgery Management and Outcome. In: Alonso, N., Raposo-Amaral, C. (eds) Cleft Lip and Palate Treatment. Springer, Cham. https://doi.org/10.1007/978-3-319-63290-2_4

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  • DOI: https://doi.org/10.1007/978-3-319-63290-2_4

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