Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome

Abstract

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.