title: Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.
abstract: A three-generation BO family is presented: the proband showed, in addition to branchio-oto malformations, a severe condition with growth retardation, mandibular hypoplasia and vertebral anomalies resembling the oculo-auriculo-vertebral (OAV) phenotype. This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represent, in some cases, an extreme component of the BOR syndrome. The finding has relevant implications for genetic counselling regarding both conditions.
authors.affiliation: Istituto di Genetica Medica, Università di Ferrara-Arcispedale S. Anna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Sensi
authors.forename: G
authors.initials: G
authors.lastname: Cocchi
authors.forename: A
authors.initials: A
authors.lastname: Martini
authors.forename: G
authors.initials: G
authors.lastname: Garani
authors.forename: P
authors.initials: P
authors.lastname: Trevisi
authors.forename: E
authors.initials: E
authors.lastname: Calzolari
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007569:Jaw Abnormalities / Q000150:complications; D010641:Phenotype; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome