哥伦比亚口腔颌面裂的临床与描述性研究：来自微笑行动基金会的2069例患者

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

作者信息

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, Balcazar Ignacio Briceño

机构信息

Human Genetics Group, 27989Universidad de La Sabana, Chía, Cundinamarca, Colombia.

Genetic Epidemiology & Genomic Informatics, Southampton University, Southampton, UK.

出版信息

Cleft Palate Craniofac J. 2022 Feb;59(2):200-208. doi: 10.1177/10556656211000551. Epub 2021 Mar 19.

DOI:10.1177/10556656211000551

PMID:33736479

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8750128/

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.

摘要