Temporal Bone Findings in the Third and Fourth Pharyngeal Pouch (DiGeorge) Syndrome

Congenital absence of the thymus and parathyroid glands is the characteristic feature of the third and fourth pharyngeal pouch (DiGeorge) syndrome. This results in congenital primary hypoparathyroidism and deficiency of cellular immunity. Temporal bone findings in this syndrome have not been previously reported, to our knowledge. They were seen in a 7-week-old, white boy, and consisted of bilateral cochlear anomaly and otitis media. These patients usually have neonatal tetany or congenital heart disease, or both, with or without abnormal facies. If the congenital heart disease is compatible with survival, they usually die of overwhelming infection before age 3 years. Since thymic transplants have now been successfully performed in some patients, with correction of their immunologic deficits, it is likely that more will survive and have malformed pinnae and possible middle or inner ear anomalies, or both.