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العنوان
Study of Some Egyptian Patients with Multiple Congenital Anomalies/
المؤلف
Abdelhamid,Heba Amgad
هيئة الاعداد
باحث / هبه أمجد عبد الحميد
مشرف / ربــاح محمـد شوقـى
مشرف / سلاف محمد السيد
الموضوع
Multiple Congenital Anomalies-
تاريخ النشر
2015
عدد الصفحات
335.p:
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2015
مكان الإجازة
جامعة عين شمس - كلية الطب - Genetics
الفهرس
Only 14 pages are availabe for public view

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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.