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    
Abstract/OtherAbstract:
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.
Authors:
Yolande van Bever; Saskia J Gischler; Hans L J Hoeve; Liesbeth S Smit; Jeroen Nauta; Dennis Dooijes
Related Documents :
15283765 - Pharmacotyping of hypokalaemic salt-losing tubular disorders.
21334405 - Continuous recurrence of type 1 hepatorenal syndrome and long-term treatment with terli...
16374125 - Fluorine-18 dopa pet imaging of paraganglioma syndrome.
16801345 - A molecular and clinical study of larsen syndrome caused by mutations in flnb.
17147145 - Obstructive cholelithiasis and cholecystitis in a keeshond.
24665065 - Segmental overgrowth syndrome due to an activating pik3ca mutation identified in affect...
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    
Affiliation:
Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands. y.vanbever@erasmusmc.nl
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  physiopathology*
Apnea / complications*,  genetics,  physiopathology
Deglutition Disorders / complications*,  genetics,  physiopathology
Female
Foot Deformities, Congenital / genetics*
Humans
Infant, Newborn
Syndrome
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/SALL1 protein, human; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Perioperative outcome of colorectal cancer and validation of CR-POSSUM in a Caribbean country.
Next Document:  The molecular links between TDP-43 dysfunction and neurodegeneration.