[Hereditary haemorrhagic telanglectasia in a large Saharan familly. 87 cases in the same family (author's transl)].
Study of a large family in the Sahara led to the discovery of 87 cases of hereditary haemorrhagic telangiectasia in six generations. This disease had not previously been described in Arab families. The particular structure of this family and the high incidence of consanguinity made it possible to study one individual who was homozygous for hereditary haemorrhagic telangiectasia gene. Examination of the family tree confirms the autosomal dominant transmission of the disorder.
D000462:Algeria; D002648:Child; D003241:Consanguinity; D005260:Female; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000453:epidemiology / Q000235:genetics*
Maladie de Rendu-Osler dans une grande famille saharienne. 87 cas dans la même famille.