
	Pakistan Journal of Biological Sciences
	Year: 2003 \| Volume: 6 \| Issue: 23 \| Page No.: 1961-1965 DOI: 10.3923/pjbs.2003.1961.1965

Prevalence of Genetic Disorders in Pediatric Emergency Department Al Galaa Teaching Hospital

N.A. Meguid, S.M. El Bayoumi, N.F. Hamdi, W.N. Amen, M. Sayed and A. Mahmoud

Abstract: To determine the prevalence and patterns of presentation of cases with suspected genetic disorders among neonatal pediatric emergency department. A retrospective and prospective review of pediatric emergency department admissions at Al Galaa Teaching Hospital among one year; suspected infants with genetic disorder are prone to full clinical evaluation with special emphasis on any associated anomalies or facial malformations, meticulous pedigree construction, chromosomal analysis for karyotyping and metabolic studies when indicated. Infants with suspected genetic diseases represent 11.1% among patients admitted to PED. Of these 50% were related to single gene disorders, 22% had chromosomal aberrations, 20% were due to multifactorial etiology and 8% had sporadic isolated anomalies. Parental consanguinity was found in 40% of these cases. We concluded that genetic disorders due to single gene defect are the most common pattern of malformations. This could be related to the high consanguinity rate among Egyptian population. Also emphasized that it is important for emergency physicians, neonatologists and pediatricians to be familiar with common genetic diseases, their acute presentations and complications. Awareness of underlying genetic disorders and accurate diagnosis are required for appropriate management and proper counseling.

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How to cite this article:

N.A. Meguid, S.M. El Bayoumi, N.F. Hamdi, W.N. Amen, M. Sayed and A. Mahmoud, 2003. Prevalence of Genetic Disorders in Pediatric Emergency Department Al Galaa Teaching Hospital. Pakistan Journal of Biological Sciences, 6: 1961-1965.

DOI: 10.3923/pjbs.2003.1961.1965

URL: https://scialert.net/abstract/?doi=pjbs.2003.1961.1965

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27 May, 2012
Fatima AL-Fadhli:
I am fond of medical journals dealing about genetic diseases

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