Townes-Brocks syndrome

A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

Dysphagia

Difficulty in swallowing.


Total: 2

                       


(per page)
PMID (PMCID)
19737635
 FEMALE Infant, Newborn
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
van Bever Y, Gischler SJ, Hoeve HL, Smit LS, Nauta J, Dooijes D.
Eur J Med Genet. 2009;52(6):426-9.
We report a girl with severe manifestations of Townes-Brocks syndrome (TBS) and a previously unreported serious congenital dysphagia.
19737635
 FEMALE Infant, Newborn
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
van Bever Y, Gischler SJ, Hoeve HL, Smit LS, Nauta J, Dooijes D.
Eur J Med Genet. 2009;52(6):426-9.
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.