All issues > Volume 31(1); 1988

Original Article

J Korean Pediatr Soc. 1988;31(1):100-105. Published online January 31, 1988.

A Case of DiGeorge's Syndrome.

Jong Sik Kim¹, Dae Young Kim¹, Kang Ho Kim¹, Choon Ho Park¹, Young Bong Park¹, Kwang Rhun Koo¹, Chang Soo Ra¹

¹Department of Pediatrics, College of Medicine, Chosun University, Kwangju, Korea

Received: July 25, 1987;

Abstract

DiGeorge’s syndrome is characterized by partial or complete absence of the parathyroid gland and thymus gland and often associated with the cardiovascular and craniofacial anomalies. A-22-days old male infant, delivered without complications at term after a normal pregnancy, developed irritability, feeding difficulties, dyspnea and convulsion. He was characterized by a low-set, malformed right ear, short philtrum of the upper lip, absence of the thymic shadow in films of the chest X-ray. The ventricular septal defect and over-riding of aorta were showed in the echocardiogra- phy. The serum calcium level was 4.6 mg/dl, the serum phosphorus level was 7.8 mg/dl and the serum parathyroid hormone level was 460 pg/ml. A brief review of literature was made.

Keywords :DiGeorge’s syndrome, Hypocalcemia