Syndrom Debré cutis laxa
2003
Cutis laxa is a recognizable symptom of heterogenous group of disorders, the majority of them is autosomal recessive. Cutis laxa as a symptom of diverse syndromes can occur with mental retardation in De Barsy, Debre, Costello and Wiedemann-Rautenstrauch syndrome or together with bone dystrophy in Debre and Costello syndrome. In majority ofsyndromic form ofcutis 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 Debre.
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