Article
Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.
Clinical genetics - 1 Jun 1996
Sensi A, Cocchi G, Martini A, Garani G, Trevisi P, Calzolari E
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adult
- Ear
- Eye Abnormalities
- Female
- Growth Disorders
- Humans
- Jaw Abnormalities
- Phenotype
- Pregnancy
- Spine
- Syndrome