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Case Report
A Case of Partial DiGeorge Syndrome in Prematurity
Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son
Clin Exp Pediatr. 2002;45(3):383-389.   Published online March 15, 2002
We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL,...
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