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Debré Cutis Laxa Syndrome


Authors: E. Seemanová
Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. lékařské fakulty Univerzity Karlovy, Praha vedoucí MUDr. M. Havlovicová
Published in: Čes-slov Pediat 2003; (1): 25-28.
Category:

Overview

Cutis laxa is a recognizable symptom of heterogenous group of disorders, the majority of them is autosomalrecessive. Cutis laxa as a symptom of diverse syndromes can occur with mental retardation in De Barsy, Debré,Costello and Wiedemann-Rautenstrauch syndrome or together with bone dystrophy in Debré and Costellosyndrome. In majority of syndromic form of cutis laxa with exception of Ehlers-Danlos (mutations in collagen gen)are responsible gene unknown. Author reports the familial case of autosomal recessive syndrome cutis laxa Debré.

Key words:
cutis laxa, De Barsy, Debré, Costello, Wiedemann-Rautenstrauch, Ehlers-Danlos type IV, V, VIIsyndrome, autosomal recessive inheritance

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Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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