Study of Some Egyptian Patients with Multiple Congenital Anomalies

Abstract

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