Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

Yolande van Bever; Saskia J. Gischler; Hans L.J. Hoeve; Liesbeth S. Smit; Jeroen Nauta; Dennis Dooijes

doi:10.1016/j.ejmg.2009.09.001

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

Yolande van Bever^*
, Saskia J. Gischler
, Hans L.J. Hoeve
, Liesbeth S. Smit
, Jeroen Nauta
, Dennis Dooijes

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	426-429
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	52
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2009.09.001
Publication status	Published - 1 Nov 2009

Keywords

Dysphagia and esophageal motility dysfunction
Hearing loss
Preaxial polydactyly
SALL1
Townes-Brocks syndrome

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10.1016/j.ejmg.2009.09.001

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title = "Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement",

abstract = "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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AU - van Bever, Yolande

AU - Gischler, Saskia J.

AU - Hoeve, Hans L.J.

AU - Smit, Liesbeth S.

AU - Nauta, Jeroen

AU - Dooijes, Dennis

PY - 2009/11/1

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AB - 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.

KW - Dysphagia and esophageal motility dysfunction

KW - Hearing loss

KW - Preaxial polydactyly

KW - SALL1

KW - Townes-Brocks syndrome

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JF - European Journal of Medical Genetics

IS - 6

ER -

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

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Keywords

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