Aural abnormalities in partial DiGeorge syndrome.
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.
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