title: The branchio-oto-renal syndrome (report of two family groups).
abstract: The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia. We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.
authors.affiliation: Pediatric Nephrology Dept., G. Gaslini Institute, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Raspino
authors.forename: V
authors.initials: V
authors.lastname: Tarantino
authors.forename: L
authors.initials: L
authors.lastname: Moni
authors.forename: E
authors.initials: E
authors.lastname: Verrina
authors.forename: M R
authors.initials: MR
authors.lastname: Ciardi
authors.forename: R
authors.initials: R
authors.lastname: Gusmano
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000368:Aged; D001935:Branchioma / Q000235:genetics*; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D013577:Syndrome