[Congenital myopathy associated with cutis laxa].
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.
Martín
R
R
Febrer
I
I
Lainez
J M
JM
Romero
A
A
Sancho
J
J
Cerdá
J M
JM
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
Miopatía congénita asociada a cutis laxa.