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The clefts as inborn defects


Authors: Miloslav Kuklík
Authors‘ workplace: Genetické oddělení, Praha 3
Published in: Čas. Lék. čes. 2013; 152: 185-191
Category: Review Article

Overview

The article refers usual facial clefts, which are not rare anomalies. Relation to other forms of so-called midline defects (limb clefts) is indicated. Syndromic and unusual clefts are rarer than isolated non-syndromic clefts. Clinical features, including minimal symptomatology, etiopathogenesis and population frequency are discussed. From the diagnostic point of view specific, prenatal, postnatal and differential diagnostic approaches are recognized. Preventive aspects, therapy and management of the disease (for cleft lip and palate defects, median cleft palate, broad spectrum of neural tube defects including anencephaly, limb clefts etc.) are important. We estimated the empiric risk of the recurrence and suggest methods for preconceptional preventive care.

Keywords:
cheilognathopalatoschizis – cleft palate – neural tube defects – limb clefts – etiopatogenesis – heredity – empiric risks and preconceptional care


Sources

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