[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.
Unité de génétique médicale, Faculté de médecine, Université Saint-Joseph, Beyrouth, Liban.
P
P
Jabre
M
M
Mezzina
A
A
Megarbane
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.