Townes-Brocks syndrome with overlapping features of hemifacial microsomia

Abstract

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental retardation has been reported. It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. We report a classical case of TBS with overlapping features of hemifacial microsomia in an 11 year old boy who presented with unilateral anotia with hearing defect, renal agenesis and imperforate anus by birth.