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[对有近亲结婚父母的唇腭裂患者的研究]

[Study of patients with cleft lip and palate with consanguineous parents].

作者信息

Aquino Sibele Nascimento de, Paranaíba Lívia Máris Ribeiro, Martelli Daniella Reis Barbosa, Swerts Mário Sérgio Oliveira, Barros Letízia Monteiro de, Bonan Paulo Rogério Ferreti, Martelli Júnior Hercílio

机构信息

Estomatopatologia pela Universidade Estadual de Campinas - Unicamp, Brasil.

出版信息

Braz J Otorhinolaryngol. 2011 Jan-Feb;77(1):19-23. doi: 10.1590/S1808-86942011000100004.

Abstract

Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects. To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records. Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy. CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.

摘要

唇腭裂(CL/P)是最常见的面部先天性畸形。约70%的唇腭裂患者为非综合征性唇腭裂(CL/PNS)。描述在巴西米纳斯吉拉斯州一家参考医院诊断出的与近亲结婚相关的非综合征性唇腭裂(CL/PNS)临床病例,并将这些改变与可能的风险因素相关联。基于病历数据,对巴西米纳斯吉拉斯州一家颅面畸形参考医院2006年至2009年进行的一项回顾性研究。在该机构诊断和治疗的246例CL/PNS病例中,15例(6.1%)为报告有一级近亲结婚的CL/PNS;73.3%发生在男性。15例患者中,4例为完全性右唇腭裂(CLP),4例为完全性唇腭裂(左右侧),3例为完全性单侧左CLP,3例为孤立性腭裂,1例仅为唇裂。在风险因素中,只有3位母亲报告在孕期吸烟。有一级近亲结婚史的组中唇腭裂(单侧或双侧)更为常见;男性占主导。在风险因素中,仅3例观察到吸烟情况。

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[Study of patients with cleft lip and palate with consanguineous parents].[对有近亲结婚父母的唇腭裂患者的研究]
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