Document Detail

Cohen syndrome with insulin resistance and seizure.
MedLine Citation:
PMID:  14738954     Owner:  NLM     Status:  MEDLINE    
Cohen syndrome is a rare, genetic, connective-tissue disorder with the genetic abnormality linked to chromosome 8q22. The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities. We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia.
Mehmet Emre Atabek; Mehmet Keskin; Selim Kurtoğlu; Sefer Kumandas
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  30     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-01-23     Completed Date:  2004-03-15     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  61-3     Citation Subset:  IM    
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
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MeSH Terms
Abnormalities, Multiple* / diagnosis,  physiopathology
Hyperinsulinism / complications*,  diagnosis,  physiopathology
Insulin Resistance / physiology
Mental Retardation / complications*,  diagnosis,  physiopathology
Muscle Hypotonia / complications,  diagnosis,  physiopathology
Seizures / complications*,  diagnosis,  physiopathology

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