Pakistan Journal of Medical Sciences

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ISSN 1681-715X

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ORIGINAL ARTICLE

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Volume 24

January - March 2008

Number  6


 

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Occurrence of Congenital Anomalies and
Genetic Diseases in a Population of Ghazvin Province,
Iran: A study of 33380 cases

Movafagh A1, Z Pear Zadeh2, M HajiseyedJavadi3,
FM Mohammed4, Ghaderian SMH5, Heidari MH6,Ghasemi Barghi R7

ABSTRACT

Objectives: The purpose of this study was to determine the incidence of congenital and genetic anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin Province.

Methodology: A cross sectional study was performed between 2000- 2004 on 33380 children from infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies was elaborated by reviewing pedigree of family population screening, genetic records of family data, routine tests such as application of molecular and karyotype and other essential information have been approached.

Results: In total, the more frequent malformation associated congenital anomalies among our patients was inborn error of metabolism (7.18%) followed by disorder of congenital hearth defects (6%).

Conclusion: We suggest a possible role of various factors such as different geographical may influence dissimilarities between present study and other population. Also the necessity of particular attention and emphasize on special screening program that helps to identify early stages of genetic and congenital malformation. These results together provide information to physicians and genetic counselors to realize contribution of congenital abnormalities and setting priorities of screening individual cases

KEY WORDS: Congenital abnormality, Prevalence, Population, Iran distribution, ethnic, different habitual diet and socio - economic differences.

Pak J Med Sci    January - March 2008    Vol. 24 No. 1    80-85


1. Movafagh A, PhD,
Associate Professor of Medical Genetic,
Shaheed Beheshti Medical University,
Tehran - Iran.
2. Z Pear Zadeh, MD,
Assistant professor of Pediatrics,
Ghazvin Medical University,
Ghazvin - Iran.
3. M Hajiseyed Javadi,
General Practitioner,
4. FM Mohammed, PhD,
Assistant Professor of Allied Health Science,
Kuwait University,
5. Ghaderian SMH,
Assistant Professor of Medical Genetics,
6. Heidari MH,
Associate Professor of Medical Anatomy,
5,6: Shaheed Beheshti Medical University,
Tehran - Iran.
7. Ghasemi Barghi R,
Associate Professor,
Ghazvin Medical University
Ghazvin - Iran.

Correspondence

Dr. Abolfazl Movafagh, PhD
Associate Professor of Medical Genetics,
Department of Medical Genetics,
Shahid Beheshti Medical University,
Evin Ave, Tehran - Iran.
For details of authors see Page No. 85
E mail: movafagh_a@yahoo.com

* Received for Publication: May 28, 2007

* Revision Received: December 19, 2007

* Revision Accepted: December 25, 2007



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