Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?
We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.
D000015:Abnormalities, Multiple / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007682:Kidney Pelvis / Q000002:abnormalities*; D008297:Male; D013577:Syndrome; D014513:Ureter / Q000002:abnormalities*