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February 1975

Aural Abnormalities in Partial DiGeorge Syndrome

Author Affiliations

From the Division of Otolaryngology (Dr. Black) and the Department of Pathology (Dr. Spanier), the University of Florida, Gainesville, and the Division of Otolaryngology, University of California at Irvine (Dr. Kohut).

Arch Otolaryngol. 1975;101(2):129-134. doi:10.1001/archotol.1975.00780310051014

DiGeorge syndrome patients frequently have multiple anomalies of the craniofacial, cardiovascular, and visceral structures in addition to thymic and parathyroid hypoplasia. Gross and microscopic aural abnormalities occurring in a patient with partial DiGeorge syndrome are presented and compared with findings from the only other known temporal bone report.

Although extensive aural abnormalities were present in both patients, hearing was apparently present in one but was anatomically impossible in the other. As our colleagues conquer the metabolic, immunologic, and cardiovascular obstacles to survival, some babies with DiGeorge syndrome will present formidable aural diagnostic and habilitative problems to the communicative disorders team.