Townes-Brocks syndrome
- aDepartment of Pediatrics, Division of Genetics and Metabolism, CB 7220, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7220, USA, bJ C Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA
- Dr Powell.
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.
