Sensorineural hearing loss caused by cochlear
malformation, is present at birth or detected in early infancy, and accounts
for 10% of all childhood deafness. May have impaired vestibular
dysfunction because of widened vestibular aqueduct. Goiter usually appears
in middle or late childhood but can present in the newborn, causing airway
obstruction and respiratory distress. The goiter is usually euthyroid but
occasionally hypothyroidism may be severe. There is a very small risk of
malignant neoplasm. Mental retardation has also been reported. Normal life
span can be expected.