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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Study of congenital malformations in infants and children in Menoufia governorate, Egypt
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Study of congenital malformations in infants and children in Menoufia governorate, Egypt

机译：埃及梅努菲亚省婴幼儿先天性畸形的研究

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Congenital anomalies is one of the main causes of physical disabilities, stillbirths and neonatal deaths. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are accused. We aimed to study congenital anomalies regarding frequency, clinical pattern and associated risk factors. A cross-sectional study was conducted on 100 infants and children with congenital anomalies attended to our pediatric genetic clinic at Menoufia University Hospital from October 2016 to October 2017. Detailed history taking, clinical examination and investigations including cytogenetic study were done. Out of 100 cases, 51% have isolated anomalies and 49% have multiple anomalies, 14.2% had chromosomal abnormalities, 44.8% were diagnosed as genetic syndromes, while we did not reach the final diagnosis in 40.8% of cases. According to the ICD-10 classification of congenital anomalies musculoskeletal system anomalies were the most common in 48% of cases, followed by anomalies of the eye, ear, face and neck in 44% of cases. Anomalies of nervous system, circulatory system, genital organs, urinary system, chromosomal abnormalities, cleft lip and cleft palate occur in 26%, 22%, 18%, 12%, 7% and 6% of cases respectively. Gastrointestinal anomalies in only 4% of cases taking into account that one case may have more than one affected system. According to the guidelines for case classification for the National Birth Defects Prevention Study, 2003, 51% had major anomalies, 18% had minor anomalies while 31% had both. Some cases had undergone immediate intervention e.g. meningomyelocele, encephalocele, omphalocele and gastroschisis. While other cases required later intervention e.g. hypospadius, cleft palate and cleft lip. Male gender, consanguineous marriage and lack of maternal folic acid supplementations were found in 54%, 43% and 59% of cases respectively, constituted the main risk factors. Subjects and methods proper physical examination, cytogenetic and molecular studies are important for the early intervention so prevention will be possible.
机译：先天性异常是身体残疾，死产和新生儿死亡的主要原因之一。目前尚不清楚大多数先天性异常的确切病因，但可以归因于遗传和环境原因。我们旨在研究有关频率，临床模式和相关危险因素的先天性异常。 2016年10月至2017年10月，我们在梅努菲亚大学医院的儿科遗传诊所对100名先天性异常的婴幼儿进行了横断面研究。进行了详细的病史记录，临床检查和包括细胞遗传学研究在内的调查。在100例病例中，有51％的病例为孤立异常，49％的病例为多发异常，14.2％的患者为染色体异常，44.8％的患者被诊断为遗传综合症，而在40.8％的病例中，我们没有得到最终诊断。根据ICD-10先天性异常的分类，肌肉骨骼系统异常在48％的病例中最常见，其次是眼，耳，脸和脖子的异常，在44％的病例中。神经系统，循环系统，生殖器官，泌尿系统，染色体异常，唇left裂和pa裂异常分别发生在26％，22％，18％，12％，7％和6％的病例中。考虑到一个病例可能具有多个受影响的系统，因此只有4％的胃肠道异常。根据2003年《全国出生缺陷预防研究》的病例分类指南，有51％的人患有严重异常，有18％的人患有轻微异常，而有31％的人都有两种异常。有些案件已立即接受干预，例如脑膜脊髓球囊肿，脑膨出，卵泡囊肿和胃痉挛。而其他情况则需要稍后的干预，例如下丘脑，c裂和唇裂。主要的危险因素是男性，近亲结婚和缺乏母体叶酸补充剂，分别占54％，43％和59％。对受试者和方法进行适当的体格检查，细胞遗传学和分子研究对于早期干预很重要，因此有可能进行预防。

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