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.

Satyr ear

Sharp pointed superior portion of the ear, with variable overfolding of the helix.


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.