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
Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome
✍ Scribed by Walter Just; Thea Trautmann; Annette Baumstark; Dietmar Müller
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 81 KB
- Volume
- 117A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Branchio‐oculo‐facial 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
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