Francisquetti Marina Cristine Cano, Gil-da-Silva-Lopes Vera Lúcia, Fett-Conte Agnes Cristina
Universidade Estadual Paulista, Instituto de Biociências, Letras e Ciências Exatas, Programa de Pós-Graduação em Biociências, São José do Rio Preto, SP, Brazil.
Universidade Estadual de Campinas, Departamento de Genética Médica, Campinas, SP, Brazil.
Genet Mol Biol. 2023 Dec 18;46(4):e20230167. doi: 10.1590/1678-4685-GMB-2023-0167. eCollection 2023.
Characterization of specific birth defects is essential for conducting scientific investigations, care and therapeutic strategies. This article describes demographic, clinical and genetic aspects, risk factors and access to treatment of Brazilian patients with orofacial clefts registered in a specialized collaborative center of the Brazilian Database on Craniofacial Anomalies (BDCA). We interviewed 70 individuals with typical orofacial clefts using a standard instrument from the database and subjected them to genetic testing. The patients were grouped as syndromic and non-syndromic. The majority of individuals were of lower middle class, native ancestry and syndromic. There was a significant difference in the type of clefts regarding gender. There was no significant difference between bilateral and unilateral, between the side affected, right and left, or familial recurrence related to type of oral cleft. The risk factor familial recurrence was significantly higher among non-syndromic cases. Etiological factors were identified or suggested in 62.5% of the syndromic cases. There was a delay in diagnosis and in access to treatment in most cases. We concluded that gender, native ancestry and low family income represent risk factors. Furthermore, the distribution by cleft types and gender is similar to previous studies. The results can guide scientific investigations and care policies.
特定出生缺陷的特征描述对于开展科学研究、护理及治疗策略至关重要。本文描述了在巴西颅面畸形数据库（BDCA）的一个专门协作中心登记的巴西口面部裂隙患者的人口统计学、临床和遗传学方面、危险因素及治疗途径。我们使用数据库中的标准工具对70名典型口面部裂隙患者进行了访谈，并对他们进行了基因检测。患者被分为综合征型和非综合征型。大多数个体为中下层阶级、本地血统且为综合征型。在裂隙类型方面，性别之间存在显著差异。双侧和单侧之间、受累侧（右侧和左侧）之间或与口腔裂隙类型相关的家族复发率之间均无显著差异。非综合征型病例中家族复发的危险因素显著更高。在62.5%的综合征型病例中确定或提示了病因学因素。大多数病例存在诊断延迟和治疗途径延迟的情况。我们得出结论，性别、本地血统和家庭收入低是危险因素。此外，按裂隙类型和性别分布与先前研究相似。这些结果可指导科学研究和护理政策。
