Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity?
A family is presented in which ano-rectal malformation and features common to Alport Syndrome appear to be present in three generations. The possibility of a new syndrome based on a single gene defect is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D001006:Anus, Imperforate / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome