Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities

Two kindreds have been described (Escher and Hirt, 1968; Wilmot, 1970). The abnormality of the external ear is a minor one and was missing in some persons judged to be affected because of deafness. The moderately severe conductive deafness differs from otosclerosis in being congenital and apparently nonprogressive. Exploration of the middle ear showed curvature of the long crus of the incus and absence of the head of the stapes with a fibrous band connecting the two bones. Schweitzer et al. (1984) described the combination of conductive hearing loss due to middle ear ossicular anomalies, thickened bilateral 'lop' or 'cup' auricles (128600), and micrognathia.