Family History of Nonsyndromic Orofacial Clefts: A Brazilian Multicenter Study.

IF 2.9 3区 医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE Oral diseases Pub Date : 2025-07-01 Epub Date: 2025-01-30 DOI:10.1111/odi.15273
Leonardo Pereira de Barros, Renato Assis Machado, Lucimara Teixeira das Neves, Daniella Reis Barbosa Martelli, Ana Lúcia Carrinho Ayroza Rangel, Luiz Evaristo Ricci Volpato, Fabrício Emanuel Soares de Oliveira, Ana Laura Herrera Farha, Silvia Regina Almeida de Reis, Danyele Cambraia Franco de Souza, Rafaela Scariot, Ricardo D Coletta, Hercílio Martelli-Júnior
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Abstract

Objective: To summarize the evidence on the relationship between hereditary family history and nonsyndromic orofacial clefts (NSOC) in patients from various Brazilian states.

Methods: 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.

Results: 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.

Conclusion: 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.

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非综合征性口面部裂的家族史:一项巴西多中心研究。
目的:总结巴西不同州患者的遗传家族史与非综合征性口面部唇裂(NSOC)的关系。方法:这项横断面多中心研究是在巴西不同地区的六个专门的口面部唇裂服务进行的。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)。数据收集于2023年6月至2024年5月之间的临床记录。家族史分为阳性或阴性,并附加有关受影响亲属数量、亲属程度和唇裂类型的详细信息。统计学分析采用SPSS 27.0版本,用卡方检验和z检验评估变量间的相关性,用Student’st检验比较唇裂类型中受影响亲属的平均数量。结果:1899例患者中,52.6%为NSCLP, 24.11%为nsscpo, 23.27%为NSCLO。NSCLP和NSCLO以男性多见,而nsscpo以女性多见。NSCLP和NSCLO的家族史阳性率相似,而nsscpo具有遗传联系的病例明显较少。三度亲属在所有群体中受影响最大。结论:与nsscpo相比,NSCLP和NSCLO男性发病率更高,家族史阳性病例更多。需要进一步的研究来探索NSOC的遗传基础,特别是在遗传多样化的人群中,如巴西。
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来源期刊
Oral diseases
Oral diseases 医学-牙科与口腔外科
CiteScore
7.60
自引率
5.30%
发文量
325
审稿时长
4-8 weeks
期刊介绍: Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.
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