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Branchiooculofacial S yndrome and B ilateral E ctopic T hymus: R eport of a F amily
Author(s) -
Loh James,
ElHakim Hamdy,
Sergi Consolato Maria,
Fiorillo Loretta
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01877.x
Subject(s) - phenotype , medicine , ectopic expression , craniofacial , microbiology and biotechnology , biology , genetics , gene
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 .