Medical Dictionary

DiGeorge syndrome

play
noun Di·George syndrome \ də-ˈjȯrj- \
variants: also DiGeorge's syndrome play \-ˈjȯr-jəz\

medical Definition of DiGeorge syndrome

:a rare congenital disease that is characterized especially by absent or underdeveloped thymus and parathyroid glands, heart defects, immunodeficiency, hypocalcemia, and characteristic facial features (as wide-set eyes, small jaws, and low-set ears) and is typically caused by a deletion on the chromosome numbered 22

Biographical Note for digeorge syndrome

  • Di George, Angelo Mario (1921–2009), American endocrinologist and pediatrician. A professor of pediatrics at Temple University's School of Medicine, Di George served as chief of endocrine and metabolic services at St. Christopher's Hospital for Children in Philadelphia. He also held the positions of assistant chief of pediatrics at Philadelphia General Hospital from 1956 to 1966 and lecturer at the United States Naval Hospital in Philadelphia from 1967 to 1980. His principal areas of research were disorders of growth, pubertal development, thyroid dysfunction, and hypocalcemia. DiGeorge syndrome was first reported in 1965.

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