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ISSN 1727-897X (Electronic)

2014, Number 2

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Medisur 2014; 12 (2)

Cohen syndrome. A case report

Santana HEE, Tamayo CVJ

Language: Spanish
References: 8
Page: 437-441
PDF size: 224.50 Kb.


ABSTRACT

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.


REFERENCES

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  2. Carey JC, Hall BD. Confirmation of the Cohen syndrome. J Pediatr. 1978 ; 93 (2): 239-44.

  3. Shearman JR, Wilton AN. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics. 2011 ; 12: 258.

  4. Douzgou S, Petersen MB. Clinical variability of genetic isolates of Cohen syndrome. Clin Genet. 2011 ; 79 (6): 501-6.

  5. Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; c1993-2014 [ cited 23 Mar 2012 ] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301655.

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  7. Pirgon O, Atabek ME, Sert A. Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. J Child Neurol. 2006 ; 21 (6): 536-8.

  8. Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, et al. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 ; 128A (1): 23-8.




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