背景：颅面微缩肌（CM）的特征是第一和第二分支弓的变化。这是一种病因尚不确定的临床疾病，但是研究表明，遗传，营养,和环境因素可导致分支弓的成胚发育障碍。这项研究评估了妊娠方面，关注与CM相关的可能风险因素。
方法：这是一项病例对照研究，在医学遗传学服务机构进行监测，并与没有畸形证据的对照组患者进行比较。出生在母婴医院，都位于阿雷格里港,巴西南部。母亲的数据是通过问卷调查和回顾医疗记录获得的。样本包括43例CM患者（病例）和129例没有畸形证据的患者（对照），通过性别配对，每个案件总共三个控制。数据分析采用双尾Fisher精确检验，皮尔森卡方检验，和t检验。
结果：我们确定了与CM发展相关的几个因素，包括这些婴儿的母亲使用堕胎方法（p=.001），母体糖尿病（p=.009），高龄产妇（p=.035），有阴道出血史（p<.001）。此外，这些患者表现出早产的趋势（p=.027），低出生体重（p=0.007），与健康婴儿相比，Apgar评分较低（p=0.003）。使用多变量模型，使用流产方法(p=.003)和阴道出血(p=.032)仍然与颅面小儿独立相关.
结论：我们已经确定了发展CM的几个风险因素，包括早产的倾向，低出生体重,和呼吸困难。此外,高龄产妇和/或使用堕胎方法和/或患有糖尿病的妇女分娩CM的风险更高。这些信息在临床实践中可能是有价值的，特别是为了预防未来的病例。
BACKGROUND: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM.
METHODS: This is a
case-control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers\' data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each
case. Data analysis was performed using the two-tailed Fisher\'s exact test, Pearson\'s chi-square test, and the t-test.
RESULTS: We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p = .001), maternal diabetes (p = .009), advanced maternal age (p = .035), and a history of vaginal bleeding (p < .001). Furthermore, these patients exhibited a tendency to be born prematurely (p = .027), with low birth weight (p = .007), and lower Apgar scores (p = .003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p = .003) and vaginal bleeding (p = .032) remained independently associated with craniofacial microsomia.
CONCLUSIONS: We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases.
