Document Detail


Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family.
MedLine Citation:
PMID:  23106675     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
James Loh; Hamdy El-Hakim; Consolato Maria Sergi; Loretta Fiorillo
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  29     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  759-61     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Internal Medicine, University of Alberta, Edmonton, AB, Canada.
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