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
Human Genetics Group, 27989Universidad de La Sabana, Chía, Cundinamarca, Colombia.
Genetic Epidemiology & Genomic Informatics, Southampton University, Southampton, UK.
Cleft Palate Craniofac J. 2022 Feb;59(2):200-208. doi: 10.1177/10556656211000551. Epub 2021 Mar 19.
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.
Descriptive retrospective study.
Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years.
No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study.
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.
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.
根据唇腭裂（CL/P）的表型、性别、年龄、种族、家族史、临床表现（综合征型与非综合征型）、一些环境和行为因素以及一些临床特征，描述唇腭裂患者群体。
描述性回顾性研究。
在哥伦比亚波哥大微笑行动基金会接受遗传咨询服务超过8年的患者。
未进行筛查。所有在微笑行动基金会需要进行临床遗传学评估的患者均纳入研究。
左侧唇腭裂（CLP）和非综合征型是该群体中最常见的畸形类型。精神运动发育迟缓及心脏病是这些患者中最常见的合并症。观察到孕期接触被动吸烟的母亲比例较低，且低出生体重占相当数量的病例。Aarskog综合征、腭心面综合征和口面指综合征是该群体中唇腭裂最常见的综合征型。
在本研究中，最常见的唇腭裂类型是非综合征型完全性左侧唇腭裂。Aarskog综合征、腭心面综合征和口面指综合征是该群体中唇腭裂最常见的综合征型。
