Document Detail


Cohen syndrome with insulin resistance and seizure.
MedLine Citation:
PMID:  14738954     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Mehmet Emre Atabek; Mehmet Keskin; Selim Kurtoğlu; Sefer Kumandas
Related Documents :
14708094 - Autosomal recessive frontotemporal pachygyria.
15384094 - Girl with monosomy 1p36 and angelman syndrome due to unbalanced der(1) transmission of ...
8256814 - Clinical, cytogenetic, and molecular evidence for an infant with smith-magenis syndrome...
20425814 - The mecp2 duplication syndrome.
11287544 - Ehlers-danlos syndrome mimicking mesenteric vasculitis: therapy, then diagnosis.
2267934 - Delayed-onset dyskinetic 'cerebral palsy--a late effect of perinatal asphyxia?
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    
Affiliation:
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple* / diagnosis,  physiopathology
Child
Humans
Hyperinsulinism / complications*,  diagnosis,  physiopathology
Insulin Resistance / physiology
Male
Mental Retardation / complications*,  diagnosis,  physiopathology
Muscle Hypotonia / complications,  diagnosis,  physiopathology
Seizures / complications*,  diagnosis,  physiopathology
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Atypical childhood Wilson's disease.
Next Document:  Ophthalmoplegic migraine.