Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family

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...

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Bibliographic Details
Published in:Pediatric dermatology 2012-11, Vol.29 (6), p.759-761
Main Authors: Loh, James, El‐Hakim, Hamdy, Sergi, Consolato Maria, Fiorillo, Loretta
Format: Article
Language:English
Subjects:
Adult
Branchio-Oto-Renal Syndrome - complications
Choristoma - complications
Choristoma - pathology
Epidermis - pathology
Family Health
Female
Humans
Infant, Newborn
Skin Diseases - complications
Skin Diseases - pathology
Thymus Gland
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2012.01877.x