Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family
Article first published online: 29 OCT 2012
© 2012 Wiley Periodicals, Inc.
Volume 29, Issue 6, pages 759–761, November/December 2012
How to Cite
Loh, J., El-Hakim, H., Sergi, C. M. and Fiorillo, L. (2012), Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family. Pediatric Dermatology, 29: 759–761. doi: 10.1111/j.1525-1470.2012.01877.x
- Issue published online: 29 OCT 2012
- Article first published online: 29 OCT 2012
Branchiooculofacial syndrome (BOFS) is a rare autosomal-dominant condition characterized by branchial cleft sinus and ophthalmologic and craniofacial abnormalities that can range from mild to severe forms. Ectopic thymus, an uncommon condition with just over 100 cases reported in the literature, is seen in BOFS. We report a family with BOFS affecting the mother and two daughters, showing the dominant inheritance and variable phenotypical expression of BOFS.