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.
Black FO, Spanier SS, Kohut RI. Aural Abnormalities in Partial DiGeorge Syndrome. Arch Otolaryngol. 1975;101(2):129–134. doi:10.1001/archotol.1975.00780310051014
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