[Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission].
Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.
D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D014960:X Chromosome
Etude génétique de huit observations de dysplasie spondylo-épiphysaire d'apparition tardive et de transmission autosomique récessive.