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Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.

作者信息

Sensi A, Cocchi G, Martini A, Garani G, Trevisi P, Calzolari E

机构信息

Istituto di Genetica Medica, Università di Ferrara-Arcispedale S. Anna, Italy.

出版信息

Clin Genet. 1996 Jun;49(6):300-2. doi: 10.1111/j.1399-0004.1996.tb03792.x.

DOI:10.1111/j.1399-0004.1996.tb03792.x
PMID:8884078
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.

摘要

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