title: Aural abnormalities in partial DiGeorge syndrome.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D004423:Ear / Q000002:abnormalities* / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D007758:Ear, Inner / Q000002:abnormalities / Q000473:pathology; D004432:Ear, Middle / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D010280:Parathyroid Glands / Q000002:abnormalities* / Q000473:pathology; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities* / Q000473:pathology; D014599:Uterus / Q000002:abnormalities