Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
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.
van Bever
Yolande
Y
Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands. y.vanbever@erasmusmc.nl
Gischler
Saskia J
SJ
Hoeve
Hans L J
HL
Smit
Liesbeth S
LS
Nauta
Jeroen
J
Dooijes
Dennis
D
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D001049:Apnea / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D003680:Deglutition Disorders / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
C104146:SALL1 protein, human; D014157:Transcription Factors