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.

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doi.org/10.1016/j.ejmg.2009.09.001, hdl.handle.net/1765/24348
European Journal of Medical Genetics
Erasmus MC: University Medical Center Rotterdam

van Bever, Y, Gischler, S.J, Hoeve, L.J, Smit, L.S, Nauta, J, & Dooijes, D. (2009). Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. European Journal of Medical Genetics, 52(6), 426–429. doi:10.1016/j.ejmg.2009.09.001