Branchiootorenal and branchiooculofacial syndrome

Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchiooculofacial syndrome (BOF), with incomplete penetrance and variable expression. The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lachrymal duct obstruction, branchial cleft remnants, and renal or urethral defects. The relationship between these 2 syndromes is still unclear.

We present 2 patients with these rare syndromes: a girl who has fulfilled the diagnostic criteria for BOR syndrome and a boy who has more than fulfilled the criteria for BOF syndrome. The diagnosis of BOF syndrome was performed only on the basis of clinical findings, without genetic confirmation.

Differential diagnosis between these similar syndromes with phenotypic variation is delicate especially without genetic examinations.