背景面部异常是出生缺陷的重要组成部分,口腔裂痕是该组中第二常见的实体。身体内的所有器官系统都可能受到先天性异常的影响,主要影响肌肉骨骼系统。出生缺陷是全世界婴儿死亡率和发病率的主要原因之一。目的寻找与面部畸形风险增加相关的因素,以便采取改进预防措施。方法这是一项横断面研究,其中数据是从儿科住院的婴儿档案中收集的。有关先天性异常类型的数据,在怀孕期间进行的产妇调查,产妇用药史,糖尿病,高血压,辐射暴露,吸烟,和酗酒史,从新生儿和儿科医生的档案中收集先天性异常的家族史。在没有答案的情况下,10天后与父母联系,并征得他们的同意。结果在259名儿童(男132名;女127名)的样本量中,68(26%)有唇裂,69人(27%)有腭裂,110例(42%)唇腭裂,5人(2%)唇裂伴鼻畸形,5例(2%)唇腭裂伴鼻畸形,和两个(1%)有过度端粒。颅面畸形新生儿中有8%有先天性畸形家族史;80.7%的新生儿有父母血亲史;19.3%无关。关于母亲,41.3%的母亲患有糖尿病,4%有高血压,4%的人同时患有妊娠期糖尿病和高血压,55%的人没有这些疾病。在55%的两种疾病的母亲中,75%的人嫁给了他们的表亲,而25%的人在家庭中没有结婚。实际意义这项研究,强调导致先天性面部畸形发生率的主要因素,将教育社区,并在年轻一代中建立对异常的主要原因的认识,因此,对减少先天性异常患病率的努力产生了巨大影响。结论研究对象中,唇腭裂畸形的患病率最高(110例(42%))。父母血缘关系是与面部畸形风险增加相关的主要因素之一。
Background Facial anomalies comprise a significant component of birth defects, with oral clefts being the second most common entity in this group. All organ systems within the body can be affected by congenital anomalies, mostly affecting the musculoskeletal system. Birth defects are among the leading causes of infant mortality and morbidity around the world. Objectives To find the factors associated with an increased risk of facial malformations so that steps for improving preventive measures can be taken. Methodology This was a cross-sectional study in which the data were collected from the files of infants admitted to the pediatric department. Data regarding the type of congenital anomaly, maternal investigations done during pregnancy, maternal history of medication, diabetes, hypertension, radiation exposure, smoking, and alcohol history, and family history of congenital anomalies was collected from the files of neonates and from the pediatrician. In the case of unanswered questions, the parent was contacted after 10 days with their consent. Results Of the sample size of 259 children (males: 132; females: 127), 68 (26%) had a cleft lip, 69 (27%) had a cleft palate, 110 (42%) had both cleft lip and palate, five (2%) had a cleft lip with nasal deformity, five (2%) had a cleft lip and palate with nasal deformity, and two (1%) had hypertelorism. Eight percent of neonates with craniofacial malformations had a family history of congenital malformations; 80.7% of neonates had a history of parental consanguinity; and 19.3% were unrelated. In regard to the mothers, 41.3% of the mothers had diabetes, 4% had hypertension, 4% had both gestational diabetes and hypertension, and 55% had neither of these diseases. Of the 55% of mothers with neither disease, 75% were married to their cousins, while 25% were not married within the family. Practical implications This study, highlighting the major factors contributing to the incidence of congenital facial malformations, will educate the community and establish awareness among the younger generation of the top causes of anomalies, therefore making a huge impact on increasing efforts to reduce the prevalence of congenital anomalies. Conclusion Defects of both the cleft lip and palate had the highest prevalence of facial malformations among study subjects (110 patients (42%)). Parental consanguinity is one of the leading factors associated with an increased risk of facial malformations.