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Abstract The present study aimed to describe some patients with e congenital anomalies in Egypt. Subjects included 20 patients (infants and children) with e congenital anomalies. They were 12 males and 8 females. ges ranged between 11 day and 15 year with mean age of 4 nd 3 months. The patients were recruited from the genetics ediatrics hospital, Ain Shams University. Full history taking including name, family pedigree ction including consanguinity, sibling (age, sex, health n and any similar illness), maternal age, paternal age, address, ion of father and mother, family history, perinatal history, nd post natal history. Also detailed clinical examination g examination of all systes, dysmorphic features and ometric measures. Also, investigation to uncover anomalies ng to clinical findings e.g. echocardiography, pelviabdoinal nd, X-ray bones, audiometer, brain MRI and karyotyping. History of consanguinity of the parents was present in seven and history of similar condition was reported in four patients. of abortion was reported in seven mothersand sib death in six . Patients with problems in the antenatal periods included patients including pregnancy induced hypertension and mpsia. Congenital anomalies in patients were classified according to ological diagnosis and included 4 patients with chromosomal alities, 13patients with autosomal recessive disorders, two tosomal dominant disorder and one with x-linked disorder. |