External auditory atresia and the deleted chromosome

Four patients presented with suspected hearing loss and growth and motor retardation. Hearing loss was confirmed, and in three patients was conductive in nature, associated with bilateral atresia or hypoplasia of the bony external auditory canal and essentially normal pinnae. One patient had normal ear canals and mixed hearing loss. The patients had a variety of somewhat subtle associated defects. These included epicanthic folds, strabismus, microcephaly, hypertelorism, hypoplasia of the mid‐face, carpshaped mouth, short stature, foot anomalies, congenital heart disease and absent IgA. Chromosome analysis showed deletion of the long arm or a ring formation of chromosome 18, which defects are potentially transmissible to the next generation. Petrous pyramid polytomography showed atresia plates in the region of the tympanic membrane in the three patients with abnormal external auditory canals. The middle ears appeared normal. Polytomography was entirely normal in the fourth patient with patent canals and a mixed hearing loss. The patient with “isolated” auditory atresia, retardation, relatively minor facial abnormalities and either previously surgically corrected or previously undetected other abnormalities ( e.g. , congenital heart disease, club foot), should be suspect for this disorder. The diagnosis is confirmed by karyotype. Complete workup also includes audiometry and petrous pyramid polytomography. Karyotypes should be performed on the parents to rule out a balanced translocation. Otologic management is basically the same as that in other children with external auditory atresia, but may be contingent on the control of other health problems.