Congenital cutis laxa: report of a case
Revue Maghrebine de Pediatrie [La]. 2009; 19 (5): 265-269
em Francês
| IMEMR
| ID: emr-134321
ABSTRACT
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
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Vísceras
/
Cútis Laxa
/
Tecido Elástico
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Francês
Revista:
Rev. Maghreb. Pediatr.
Ano de publicação:
2009
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