Stapedial hypoplasia in partial DiGeorge's syndrome.

Abstract

DiGeorge's syndrome applies to immunodeficiency associated with abnormal development of the third and fourth pharyngeal pouches.1Cardiac2and facial maldevelopment3not directly related to the third and fourth pouches may be associated with the syndrome, and incomplete variants have been recognized.4Middle ear structures that derive from branchial anlage are not readily accessible for clinical study and are rarely commented on in descriptions of the DiGeorge's syndrome. We describe an infant with partial DiGeorge's syndrome in whom middle ear derivatives of the second branchial arch were hypoplastic. Report of a Case.—A 2,800-g boy was born to a 19-year-old gravida 1, para 0 after a 40-week gestation. At 30 hours, cyanosis and respiratory distress developed that was associated with absent peripheral pulses and a grade 2/6 murmur at the left sternal border. Roentgenograms showed an enlarged heart, increased pulmonary vascular markings, deformed T-10 with bilateral hemivertebrae,