- Case Report
- A Case of DiGeorge Syndrome
-
Young Joo Son, Yu Sik Jeon, Soon Lee Jung, Kyuchul Choeh
-
Clin Exp Pediatr. 1998;41(3):390-395. Published online March 15, 1998
-
|
We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with
micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin. The serum calcium level was 3.7mg/dl, ionized calcium level was 0.62mmol/L, and parathyroid hormone carboxy-terminal level was 0.01ng/ml. We treated with it calcium gluconate infusion, low phosphorous formula milk feeding, and... |
-
-
- A Case of Trisomy 9 Syndrome
-
yu Sik Jeon, Heung Tak Kim, Soon Hee Jeong, Kyuchul Choeh
-
Clin Exp Pediatr. 1998;41(2):255-258. Published online February 15, 1998
-
|
Since Feingold and his collegues first describes the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a a long life.
Before this report, this syndrome has not been reported in Korea. A neonate was diagniosed... |
-
-
|