Branchio-oto-renal dysplasia associated with tetralogy of fallot
β Scribed by Angelos Daggilas; Dr. Kostas Antoniades; Sousan Palasis; Athanasios Aidonis
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 282 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1043-3074
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β¦ Synopsis
Abstract
Branchioβotoβrenal dysplasia in its full expression consists of external ear malformations, cervical fistulas or cysts, preauricular pits, hearing loss of conductive sensorineural or mixed type, and renal anomalies. The syndrome is inherited in an autosomal dominant mode. We present a sporadic case of BOR dysplasia associated with tetralogy of Fallot in a 30βmonthβold girl. The clinical aspects of the disease are discussed briefly.
π SIMILAR VOLUMES
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di