title: Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome?
abstract: We report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition seems to be inherited as an autosomal recessive trait. We suggest that these findings comprise a new autosomal recessive entity of branchial, auricular and costal anomalies, for which we suggest the acronym BOC (branchio-oto-costal) syndrome.
authors.affiliation: Dipartimento di Pediatria, Università di Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: I
authors.initials: I
authors.lastname: Mammi
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001934:Branchial Region / Q000002:abnormalities*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics / Q000473:pathology*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D012272:Ribs / Q000002:abnormalities*