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.

Apnea

Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.


Total: 1

                      


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