title: Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred.
abstract: While studying an extended family of individuals with the Ehlers-Danlos (ED) syndrome type I, we found an affected male who was born to 2 affected consanguineous parents. This man had a more severe condition than that of his other affected relatives. Moreover, all 6 of his children were affected. Taking the pedigree data into account, the conditional probability of homozygosity for the ED gene in that patient was calculated as 97%. Some problems of the clinical and genetic approach to the recognition of the homozygous state in the ED syndrome are discussed using this family as an example.
mesh_terms: D001382:Azerbaijan; D003241:Consanguinity; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011336:Probability