A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
نویسندگان
چکیده
using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion is observed in majority of patients with DiGeorge syndrome [8]. Patients with DiGeorge syndrome show typical features such as conotruncal cardiac anomaly, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia, which have been given an acronym CATCH22 [9]. DiGeorge syndrome is the cause of congenital A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
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