[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].
Cockayne syndrome is a rare autosomal recessive progressive neurological disorder characterized by a nanism, a major cachexy, a characteristic facial appearance of premature ageing, a sun-sensitivity, a retinopathy, and a mental retardation. We report three observations of Cockayne syndrome. The diagnostic criteria, notably clinical, found in these patients are discussed in comparison to the literature.
Jabre
P
P
Unité de génétique médicale, Faculté de médecine, Université Saint-Joseph, Beyrouth, Liban.
Mezzina
M
M
Megarbane
A
A
D019588:Aging, Premature / Q000503:physiopathology; D002100:Cachexia / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004392:Dwarfism / Q000503:physiopathology; D019066:Facies; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology; D008297:Male; D010787:Photosensitivity Disorders / Q000503:physiopathology
Le syndrome de Cockayne au Liban. Description de trois cas et revue de la litterature.