Síndrome de Cohen: asociación no casual con anillos vasculares

  1. C. Pérez-Caballero Macarrón
  2. C. Lozano Giménez
  3. A. Quintana Castilla
  4. J.M. Aparicio Meix
Revue:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Année de publication: 2000

Volumen: 52

Número: 3

Pages: 289-295

Type: Article

DOI: 10.1016/S1695-4033(00)77342-5 DIALNET GOOGLE SCHOLAR lock_openAccès ouvert editor

Résumé

Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related wiyh vascular rings.

La source de données: Dialnet