PT  - JOURNAL ARTICLE
AU  - Cynthia M Powell
AU  - Ron C Michaelis
TI  - Townes-Brocks syndrome
AID  - 10.1136/jmg.36.2.89
DP  - 1999 Feb 01
TA  - Journal of Medical Genetics
PG  - 89--93
VI  - 36
IP  - 2
4099  - http://jmg.bmj.com/content/36/2/89.short
4100  - http://jmg.bmj.com/content/36/2/89.full
SO  - J Med Genet1999 Feb 01; 36
AB  - 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.