## Abstract Branchioโoculoโfacial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutati
Branchio-oculo-facial syndrome with the atresia of external ear
โ Scribed by Ozcan Ozturk; Abdurrahman Tokmak; Levent Demirci; Fatma Silan; Ender Guclu
- Book ID
- 116563966
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 233 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0165-5876
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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