Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.
A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.
König
R
R
Institut für Humangenetik, Frankfurt/Main, Germany.
Fuchs
S
S
Dukiet
C
C
D000015:Abnormalities, Multiple / Q000235:genetics; D001934:Branchial Region / Q000002:abnormalities*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome