RESUMEN

Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers-Danlos syndrome type IV. However, their cultured skin fibroblasts synthesize and secrete procollagen type III in normal amounts and proportions. This is probably a new form of the Ehlers-Danlos syndrome with autosomal recessive inheritance classified as Ehlers-Danlos syndrome type IV D.

Asunto(s)

Consanguinidad , Síndrome de Ehlers-Danlos/genética , Genes Recesivos , Biopsia , Células Cultivadas , Niño , Preescolar , Cromatografía DEAE-Celulosa , Síndrome de Ehlers-Danlos/metabolismo , Síndrome de Ehlers-Danlos/patología , Electroforesis en Gel de Poliacrilamida , Femenino , Fibroblastos/metabolismo , Humanos , Masculino , Linaje , Procolágeno/metabolismo , Piel/patología

Asunto(s)

17-Hidroxicorticoesteroides/orina , Carbamazepina/orina , Colorimetría/métodos , Femenino , Humanos , Neuralgia del Trigémino/orina