Post-Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Silvio Marchione Street, 3-20, Vila Universitária, 17012-900 Bauru, Sao Paulo, Brazil..
Post-Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Silvio Marchione Street, 3-20, Vila Universitária, 17012-900 Bauru, Sao Paulo, Brazil.; Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, (FOB/USP), Dr. Octávio Pinheiro Brisolla Al, 9-75, Vila Universitária, 17012-901 Bauru, Sao Paulo, Brazil..
Early Hum Dev. 2019 Aug;135:23-26. doi: 10.1016/j.earlhumdev.2019.06.005. Epub 2019 Jun 18.
The cleft lip with or without palate is the most common congenital craniofacial anomaly, presenting prevalence that varies between different ethnicities. It presents a complex and multifactorial etiology which involves genetic and environmental factors. Regarding family history, some studies have observed a significant association among parental consanguinity and orofacial clefts.
To investigate if there is an association between parental consanguinity and the occurrence of oral cleft in the offspring.
Retrospective, cross-sectional, quantitative case-control study.
Case group - parents of subjects with nonsyndromic oral cleft (n = 746). Oral cleft was classified in the following group: cleft lip only - CLO (complete or incomplete, unilateral or bilateral); complete cleft lip and palate - CLP (unilateral or bilateral); and, cleft palate only - CPO (complete or incomplete). Control group - parents of subjects without clefts or other anomalies (n = 502), totaling 1248 subjects.
Fisher's exact test was used to compare the consanguinity rates observed between the two groups (p < 0.05 for statistically significant differences).
A positive consanguinity rate of 2.68% was observed in the case group and 0.79% in the control group. This difference found between the groups was statistically significant (p = 0.02). The most frequent degree of kinship in cases of consanguineous marriages, in both groups, was between first cousins. The most frequent types of clefts in the offspring were also the cleft palate only and the cleft lip only.
In the study population, parental consanguinity was associated with the occurrence of nonsyndromic oral cleft, and may be considered an isolated risk factor in this population.
唇裂伴或不伴腭裂是最常见的颅面先天畸形,其患病率在不同种族之间存在差异。它具有复杂的多因素病因,涉及遗传和环境因素。关于家族史,一些研究观察到父母近亲结婚与口面裂之间存在显著关联。
调查父母近亲结婚与子女发生口腔裂的关系。
回顾性、横断面、定量病例对照研究。
病例组-非综合征性口腔裂(n=746)患儿的父母。口腔裂分为以下几类:单纯唇裂- CLO(完全或不完全,单侧或双侧);完全性唇腭裂- CLP(单侧或双侧);单纯腭裂- CPO(完全或不完全)。对照组-无裂或其他畸形患儿的父母(n=502),共 1248 例。
采用 Fisher 确切检验比较两组观察到的近亲结婚率(p<0.05 为统计学差异显著)。
病例组近亲结婚率为 2.68%,对照组为 0.79%。两组间差异有统计学意义(p=0.02)。近亲结婚的亲属关系最常见的程度在两组中均为表亲。在子女中最常见的裂类型也是单纯腭裂和单纯唇裂。
在研究人群中,父母近亲结婚与非综合征性口腔裂的发生有关,可被视为该人群的一个孤立的危险因素。