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Clinical and descriptive study of orofacial clefts in Colombia: 2069 patients from operation smile foundation

Clinical and descriptive study of orofacial clefts in Colombia: 2069 patients from operation smile foundation
Clinical and descriptive study of orofacial clefts in Colombia: 2069 patients from operation smile foundation

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.

epidemiology, maternal factors, nonsyndromic clefting
1055-6656
Espinosa, Alejandro Silva
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Martinez, Julio Cesar
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Molina, Yubahhaline
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Gordillo, María Alejandra Bermúdez
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Hernández, Daniel Ramos
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Rivera, Daniela Zárate
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Olmos, Blanka Pacheco
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Ramírez, Nathaly
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Arias, Liliana
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Zarate, Andres
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Diana Marcela Diaz, Q.
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Collins, Andrew
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Cepeda, Álvaro Mauricio Herrera
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Balcazar, Ignacio Briceño
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Espinosa, Alejandro Silva
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Martinez, Julio Cesar
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Molina, Yubahhaline
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Gordillo, María Alejandra Bermúdez
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Hernández, Daniel Ramos
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Rivera, Daniela Zárate
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Olmos, Blanka Pacheco
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Ramírez, Nathaly
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Arias, Liliana
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Zarate, Andres
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Diana Marcela Diaz, Q.
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Collins, Andrew
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Cepeda, Álvaro Mauricio Herrera
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Balcazar, Ignacio Briceño
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Espinosa, Alejandro Silva, Martinez, Julio Cesar, Molina, Yubahhaline, Gordillo, María Alejandra Bermúdez, Hernández, Daniel Ramos, Rivera, Daniela Zárate, Olmos, Blanka Pacheco, Ramírez, Nathaly, Arias, Liliana, Zarate, Andres, Diana Marcela Diaz, Q., Collins, Andrew, Cepeda, Álvaro Mauricio Herrera and Balcazar, Ignacio Briceño (2021) Clinical and descriptive study of orofacial clefts in Colombia: 2069 patients from operation smile foundation. The Cleft Palate-Craniofacial Journal. (doi:10.1177/10556656211000551). (In Press)

Record type: Article

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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10556656211000551 (1) - Version of Record
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More information

Accepted/In Press date: 19 March 2021
Additional Information: Publisher Copyright: © 2021, American Cleft Palate-Craniofacial Association. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
Keywords: epidemiology, maternal factors, nonsyndromic clefting

Identifiers

Local EPrints ID: 448930
URI: http://eprints.soton.ac.uk/id/eprint/448930
ISSN: 1055-6656
PURE UUID: b23e7987-c990-4d93-8be7-9178a93b5c54
ORCID for Andrew Collins: ORCID iD orcid.org/0000-0001-7108-0771

Catalogue record

Date deposited: 11 May 2021 16:48
Last modified: 26 Nov 2021 02:35

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Contributors

Author: Alejandro Silva Espinosa
Author: Julio Cesar Martinez
Author: Yubahhaline Molina
Author: María Alejandra Bermúdez Gordillo
Author: Daniel Ramos Hernández
Author: Daniela Zárate Rivera
Author: Blanka Pacheco Olmos
Author: Nathaly Ramírez
Author: Liliana Arias
Author: Andres Zarate
Author: Q. Diana Marcela Diaz
Author: Andrew Collins ORCID iD
Author: Álvaro Mauricio Herrera Cepeda
Author: Ignacio Briceño Balcazar

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