Hereditary deafness associated with branchial fistulae and external ear malformations

Two families are presented in which affected members had deafness, preauricular sinuses, branchial fistulae and malformation of the external ear. In Family I, a renal abnormality was an associated feature. In Family 2, two individuals had an abnormality of the incudostapedial joint. In both families inheritance was autosomal dominant with variable expressivity. The occurrence of external-ear malformations, branchial fistulae, and preauricular sinuses should indicate the need to search for a hearing loss not only in the patient but amongst relatives.