Document Detail

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
MedLine Citation:
PMID:  19737635     Owner:  NLM     Status:  MEDLINE    
We report a girl with severe manifestations of Townes-Brocks syndrome (TBS) and a previously unreported serious congenital dysphagia. She is unable to swallow her saliva and consequently chokes frequently with desaturations still existing beyond the second year of life. Involvement of the feet was more extensive than is usually seen in TBS. Mutation analysis of the SALL1 gene, responsible for TBS, resulted in the identification of the de novo hot-spot mutation p.Arg276X. This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS.
Yolande van Bever; Saskia J Gischler; Hans L J Hoeve; Liesbeth S Smit; Jeroen Nauta; Dennis Dooijes
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-09-06
Journal Detail:
Title:  European journal of medical genetics     Volume:  52     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2009 Nov-Dec
Date Detail:
Created Date:  2009-11-09     Completed Date:  2010-02-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  426-9     Citation Subset:  IM    
Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics,  physiopathology*
Apnea / complications*,  genetics,  physiopathology
Deglutition Disorders / complications*,  genetics,  physiopathology
Foot Deformities, Congenital / genetics*
Infant, Newborn
Transcription Factors / genetics
Reg. No./Substance:
0/SALL1 protein, human; 0/Transcription Factors

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