third and fourth pharyngeal pouch syndromemedical dictionary


Also called the Di George syndrome (dgs), this disorder is characterised by (1) low blood calcium levels (hypocalcaemia) due to underdevelopment (hypoplasia) of the parathyroid glands which control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the heart involving the outflow tracts more than from the heart. most cases of dgs are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the american paediatric endocrinologist angelo Di George. Another name for dgs is hypoplasia of the thymus and parathyroids.

(12 Dec 1998)

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