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      Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation

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          Abstract

          Objective:

          To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features.

          Design:

          Descriptive retrospective study.

          Setting:

          Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years.

          Participants:

          No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study.

          Results:

          Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population.

          Conclusions:

          In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

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          Most cited references74

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          Cleft lip and palate: understanding genetic and environmental influences.

          Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.
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            Cleft lip and palate

            The Lancet, 374(9703), 1773-1785
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              Classification, epidemiology, and genetics of orofacial clefts.

              Orofacial clefts (OFCs) include a broad range of facial conditions that differ in cause and disease burden. In the published literature, there is substantial ambiguity in both terminology and classification of OFCs. This article discusses the terminology and classification of OFCs and the epidemiology of OFCs. Demographic, environmental, and genetic risk factors for OFCs are described, including suggestions for family counseling. This article enables clinicians to counsel families regarding the occurrence and recurrence of OFCs. Although much of the information is detailed, it is intended to be accessible to all health professionals for use in their clinical practices.
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                Author and article information

                Journal
                Cleft Palate Craniofac J
                Cleft Palate Craniofac J
                CPC
                spcpc
                The Cleft Palate-Craniofacial Journal
                SAGE Publications (Sage CA: Los Angeles, CA )
                1055-6656
                1545-1569
                19 March 2021
                February 2022
                : 59
                : 2
                : 200-208
                Affiliations
                [1 ]Human Genetics Group, Ringgold 27989, Universidad de La Sabana; , Chía, Cundinamarca, Colombia
                [2 ]Genetic Epidemiology & Genomic Informatics, Southampton University, Southampton, UK
                [3 ]Ringgold 20313, Operation Smile Foundation; , Bogota, D.C., Colombia
                Author notes
                [*]Ignacio Briceño Balcazar, Campus del Puente del Común, Km 7, Autopista Norte de Bogotá, Chía, Cundinamarca, Colombia. Email: ignacio.briceno@ 123456unisabana.edu.co
                Author information
                https://orcid.org/0000-0003-0704-472X
                https://orcid.org/0000-0001-8314-5958
                https://orcid.org/0000-0002-6488-9334
                Article
                10.1177_10556656211000551
                10.1177/10556656211000551
                8750128
                33736479
                e517e6a4-0f31-4a1f-9961-a68bc4e9ec8a
                © 2021, American Cleft Palate-Craniofacial Association

                This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

                History
                Categories
                Original Articles
                Custom metadata
                ts19

                epidemiology,maternal factors,nonsyndromic clefting
                epidemiology, maternal factors, nonsyndromic clefting

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