Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family |
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| Authors: | James Loh M.D. Hamdy El‐Hakim M.D. Consolato Maria Sergi M.Sc. M.D. Ph.D. Loretta Fiorillo M.D. |
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| Affiliation: | 1. Department of Internal Medicine, University of Alberta, , Edmonton, AB, Canada;2. Department of Surgery, University of Alberta, , Edmonton, AB, Canada;3. Department of Pediatrics, University of Alberta, , Edmonton, AB, Canada;4. Laboratory Medicine and Pathology, University of Alberta, , Edmonton, AB, Canada;5. Department of Dermatology, University of Alberta, , Edmonton, AB, Canada |
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| Abstract: | 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. |
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