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Vol. 52. Issue 3.
Pages 289-295 (01 March 2000)
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Vol. 52. Issue 3.
Pages 289-295 (01 March 2000)
DOI: 10.1016/S1695-4033(00)77342-5
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Síndrome de Cohen: asociación no casual con anillos vasculares
Cohen's Syndrome Non-Causal Association With Vascular Rings
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C. Pérez-Caballero Macarrón*, C. Lozano Giménez, A. Quintana Castilla, J.M. Aparicio Meix
Sección de Neuropediatría. Servicios de Pediatría y Genética Clínica. Hospital Ramón y Cajal. Madrid
Article information

El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción más de cien pacientes han sido comunicados, no presentando ninguno de ellos asociación con anillos vasculares. Presentamos ocho casos pediátricos diagnosticados en nuestro hospital, la mayor serie publicada en España, de las cuales un 25% se asociaron con anillos vasculares.

Palabras clave:
Síndrome de Cohen
Anillo vascular
Retraso mental
Obesidad
Hipotonía

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.

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Copyright © 2000. Asociación Española de Pediatría
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Anales de Pediatría (English Edition)

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