title: [Townes-Brocks syndrome. Case report and review of the literature].
abstract: 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. Besides reviewing all previous publications we discuss frequency and significance of all features--especially of anorectal malformations and the third missing toe.
authors.affiliation: Institut für Humangenetik, Universität Erlangen-Nürnberg.
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: P
authors.initials: P
authors.lastname: Lorenz
authors.forename: A
authors.initials: A
authors.lastname: Bieber
authors.forename: H
authors.initials: H
authors.lastname: Gröbe
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
vernacular_title: Townes-Brocks-Syndrom. Fallbericht und Literaturübersicht.