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Review
. 1999 Feb;36(2):89-93.

Townes-Brocks syndrome

C M Powell  1 , R C Michaelis
Affiliations
Review

Townes-Brocks syndrome

C M Powell et al. J Med Genet. 1999 Feb.

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.

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References

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