Study of congenital malformations in infants and children in Menoufia governorate, Egypt

Publication date: Available online 31 May 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. ElbadawiAbstractCongenital 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 taki...
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research