Third and fourth pharyngeal pouch syndrome:
Also called the DiGeorge syndrome (DGS), this disorder is characterized by (1) low blood calcium levels (hypocalcemia) 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 > 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 pediatric endocrinologist Angelo DiGeorge. Another name for DGS is hypoplasia of the thymus and parathyroids.
|
|
|