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J Med Genet. 1999 Feb;36(2):89-93.

Townes-Brocks syndrome.

Author information

  • 1Department of Pediatrics, The University of North Carolina at Chapel Hill, 27599-7220, USA.

Abstract

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.

PMID:
10051003
[PubMed - indexed for MEDLINE]
PMCID:
PMC1734298
Free PMC Article
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