Werner's syndrome: seven cases in one family.
7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family.
D000328:Adult; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics*