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Revue Maghrebine de Pediatrie [La]. 2009; 19 (5): 265-269
em Francês | IMEMR | ID: emr-134321

RESUMO

Congenital cutis laxa is a rare hereditary heterogeneous group of disorder of elastic tissue. It is characterized by abnormally loose skin with a reduction in elastic tissue throughout the dermis. Depending on the mode of transmission and phenotypic expression, congenital cutis laxa has been classified in four types: autosomal dominant; autosomal recessive: types I and II and X-linked recessive. We report a new born girl with the autosomal recessive form of congenital cutis laxa associated with visceral abnormalities. The out come for this form was fatal. The most molecular basis for CCL were known but the therapeutic options are still limited


Assuntos
Humanos , Feminino , Cútis Laxa/diagnóstico , Tecido Elástico/patologia , Vísceras/anormalidades
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