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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Keywords Dysphagia and esophageal motility dysfunction, Hearing loss, Preaxial polydactyly, SALL1, Townes-Brocks syndrome
Persistent URL dx.doi.org/10.1016/j.ejmg.2009.09.001, hdl.handle.net/1765/24348
Journal European Journal of Medical Genetics
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