Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Bilateral triphalangeal thumbs

A bilateral form of triphalangeal thumb.

Total: 1

(per page)

PMID (PMCID)
1640945	FEMALE	Infant, Newborn
	[Townes-Brocks syndrome. Case report and review of the literature].
	Kotzot D, Lorenz P, Bieber A, Grobe H. Monatsschr Kinderheilkd. 1992;140(6):343-5.
	We report on a 14 months old Turkish girl with bilateral triphalangeal thumb and preaxial hexadaktyly on her left hand, bilaterally missing third toes and "Satyr-ears" as typical features of Townes-Brocks Syndrome.