PP67.SINGULAR AND SYNDROMATIC ANO-RECTAL MALFORMATIONS
M. BEMBEA, C. Jurca, C. Todor, C. Skrypnyk, R. Spineanu, O. Iuhas Faculty of Medicine and Pharmacie ORADEA Clinical Children Hospital ORADEA - ROMANIA e-mail: bembea@yahoo.com
*Corresponding Author:
page: 77

Abstract

INTRODUCTION. Ano-rectal malformations include stenosis, atresia and ectasia. They occur with a frequency of approximate 1:5000 newborns. They occur isolated or associated in different syndromes. At least 35 dysmorfic syndromes that associate ano-rectal malformations have already been described. Etiology may be genetic (mendelian or chromosomal) or non-genetic. STUDY GROUP AND METHODS. All the cases of ano-rectal malformations that were admitted to the Clinical Children Hospital of Oradea during the last 24 years (1982-2005) have been studied clinically, in a retrospective manner. RESULTS. The frequency of ano-rectal malformations for Bihor county is estimated at 1:10000 newborns. The number of patients identified with ano-rectal malformations was 19; 60 % of them were isolated anomaly, whereas 40 % of them were associated in syndromes or by chance. A rare case of syndrome that associates anal imperforation, polydactyly and polyotia is discussed in detail. Parti cular genetical and clinical characteristics of these anomalies are also discussed. CONCLUSIONS. The relatively rare ano-rectal malformations give rise to particular problems of genetical and clinical diagnosis and of genetic counseling. Keywords: imperforate anus, polydactyly, polyotia




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