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Branchio‐oto (BO) syndrome and oculoauriculo‐vertebral phenotype: overlapping clinical findings in a child from a BO family
Author(s) -
Sensi A.,
Cocchi G.,
Martini A.,
Garani G.,
Trevisi P.,
Calzolari E.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03792.x
Subject(s) - proband , hypoplasia , phenotype , medicine , genetic counseling , genetics , clinical phenotype , pediatrics , anatomy , biology , mutation , gene
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.