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Updated: Aug 14, 2026

Aortic Ring Assay
Published on: November 24, 2009
[Cohen's syndrome: non-causal association with vascular rings]
C Pérez-Caballero Macarrón1, C Lozano Giménez, A Quintana Castilla
1Sección de Neuropediatría, Servicios de Pediatría y Genética Clínica, Hospital Ramón y Cajal, Madrid.
Abstract:
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 with vascular rings.
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