de Barros Leonardo Pereira, Machado Renato Assis, das Neves Lucimara Teixeira, Martelli Daniella Reis Barbosa, Rangel Ana Lúcia Carrinho Ayroza, Volpato Luiz Evaristo Ricci, de Oliveira Fabrício Emanuel Soares, Farha Ana Laura Herrera, de Reis Silvia Regina Almeida, de Souza Danyele Cambraia Franco, Scariot Rafaela, Coletta Ricardo D, Martelli-Júnior Hercílio
Primary Care/Health Sciences Postgraduate Program, State University of Montes Claros (Unimontes), Montes Claros, Minas Gerais, Brazil.
Graduate Program in Oral Biology, School of Dentistry, University of Campinas (FOP-UNICAMP), Piracicaba, São Paulo, Brazil.
Oral Dis. 2025 Jul;31(7):2243-2250. doi: 10.1111/odi.15273. Epub 2025 Jan 30.
To summarize the evidence on the relationship between hereditary family history and nonsyndromic orofacial clefts (NSOC) in patients from various Brazilian states.
This cross-sectional multicenter study was conducted at six specialized orofacial cleft services across different regions of Brazil. The sample consisted of 1899 patients with NSOC, including cleft lip only (NSCLO), cleft palate only (NSCPO), and cleft lip and palate (NSCLP). Data were collected from clinical records between June 2023 and May 2024. Family history was classified as positive or negative, with additional details on the number of affected relatives, degree of kinship, and type of oral cleft. Statistical analysis was performed using SPSS version 27.0, with chi-square tests and z tests to assess associations between variables, and Student's t test to compare the mean number of affected relatives among cleft types.
Of 1899 patients, 52.6% had NSCLP, 24.11% had NSCPO, and 23.27% had NSCLO. NSCLP and NSCLO were more common in males, while NSCPO was more frequent in females. NSCLP and NSCLO showed similar rates of positive family history, whereas NSCPO had significantly fewer cases with hereditary links. Third-degree relatives were the most affected across all groups.
NSCLP and NSCLO showed a higher frequency in males and more cases of positive family history compared to NSCPO. Further studies are needed to explore the genetic basis of NSOC, particularly in genetically diverse populations like Brazil.
总结巴西不同州患者的遗传家族史与非综合征性口面部裂隙（NSOC）之间关系的证据。
这项横断面多中心研究在巴西不同地区的六个专业口面部裂隙服务机构进行。样本包括1899例NSOC患者，包括单纯唇裂（NSCLO）、单纯腭裂（NSCPO）和唇腭裂（NSCLP）。数据于2023年6月至2024年5月从临床记录中收集。家族史分为阳性或阴性，并提供有关受影响亲属数量、亲属关系程度和口腔裂隙类型的详细信息。使用SPSS 27.0版进行统计分析，采用卡方检验和z检验评估变量之间的关联，并使用学生t检验比较不同裂隙类型中受影响亲属的平均数量。
在1899例患者中，52.6%为NSCLP，24.11%为NSCPO，23.27%为NSCLO。NSCLP和NSCLO在男性中更为常见，而NSCPO在女性中更为常见。NSCLP和NSCLO的家族史阳性率相似，而NSCPO的遗传关联病例明显较少。所有组中三级亲属受影响最大。
与NSCPO相比，NSCLP和NSCLO在男性中出现的频率更高，家族史阳性的病例更多。需要进一步研究探索NSOC的遗传基础，特别是在像巴西这样基因多样化的人群中。
