Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome
β Scribed by E. Legius; J. P. Fryns; H. Van Den Berghe
- Book ID
- 115090034
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 314 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0009-9163
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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
We report on the 12-year development of a child with branchio-oculo-facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patie