[Cohen's syndrome: non-causal association with vascular rings].
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.
Pérez-Caballero Macarrón
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Sección de Neuropediatría, Servicios de Pediatría y Genética Clínica, Hospital Ramón y Cajal, Madrid.
Lozano Giménez
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Quintana Castilla
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Aparicio Meix
J M
JM
D000015:Abnormalities, Multiple; D001808:Blood Vessels / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D013577:Syndrome