DIGEORGE SYNDROME PRESENTING AS SEVERE CONGENITAL HEART-DISEASE IN NEWBORN

  • 1 January 1977
    • journal article
    • research article
    • Vol. 116  (6) , 635-+
Abstract
In 7 infants with DiGeorge syndrome [congenital absence or hypoplasia of the thymus and parathyroid glands] the major clinical manifestation was cardiac failure in the 1st wk of life. All had severe congenital heart disease: 5 had interruption of the aortic arch and associated lesions, 1 had a ventricular septal defect and a cervical aorta, and 1 had truncus arteriosus. All but 1 died by 2 wk of age. Necropsy data lent support to the hypothesis of a relation between the cardiovascular anomalies and defective development of structures derived from the 3rd and 4th pharyngeal pouches.

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