title: [Congenital myopathy associated with cutis laxa].
abstract: Congenital myopathies have been described in association with systemic and skin anomalies but not with cutis laxa. De Barsey syndrome relates cutis laxa with neurological alterations and muscular hypotonia, but electromyographic nor muscular pathological studies have been made in previously reported cases. We report a case associating two major features: cutis laxa and congenital myopathy, both confirmed by biopsy. We propose the diagnosis of De Barsey syndrome in an incomplete form.
authors.forename: R
authors.initials: R
authors.lastname: Martín
authors.forename: I
authors.initials: I
authors.lastname: Febrer
authors.forename: J M
authors.initials: JM
authors.lastname: Lainez
authors.forename: A
authors.initials: A
authors.lastname: Romero
authors.forename: J
authors.initials: J
authors.lastname: Sancho
authors.forename: J M
authors.initials: JM
authors.lastname: Cerdá
mesh_terms: D000293:Adolescent; D001706:Biopsy; D003483:Cutis Laxa / Q000150:complications* / Q000473:pathology; D004827:Epilepsy / Q000150:complications*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D010641:Phenotype; D013577:Syndrome
vernacular_title: Miopatía congénita asociada a cutis laxa.