• Can Med Assoc J · Mar 1977

    DiGeorge syndrome presenting as severe congenital heart disease in the newborn.

    • J P Finley, G F Collins, J P de Chadarévian, and R L Williams.
    • Can Med Assoc J. 1977 Mar 19; 116 (6): 635-40.

    AbstractIn seven infants with DiGeorge syndrome the major clinical manifestation was cardiac failure in the 1st week of life. All had severe congenital heart disease: five had interruption of the aortic arch and associated lesions, one had a ventricular septal defect and a cervical aorta, and one had truncus arteriosus. All but one died by 2 weeks of age. Necropsy data lent support to the hypothesis of a relation between the cardiovascular anomalies and defective development of structures derived from the third and fourth pharyngeal pouches.

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