Resumo

SANTANA HERNANDEZ, Elayne  e  TAMAYO CHANG, Victor. Cohen Syndrome. A Case Report. Medisur [online]. 2014, vol.12, n.2, pp. 437-441. ISSN 1727-897X.

Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1). Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

Palavras-chave : chromosome disorders; chromosomes, human, pair 8; abnormalities, multiple; genetic diseases, inborn; obesity; muscle hypotonia; intellectual disability; microcephaly.

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