All issues > Volume 26(1); 1983

Case Report

J Korean Pediatr Soc. 1983;26(1):102-105. Published online January 31, 1983.

A Case of 18p- Syndrome with Congenital Hypothyroidism.

Ji Young Kang¹, In Soon Lee¹, Woon Sik Kim¹

¹Department of :Pediatrics, In Cheon Gil Hospital

Abstract

We have experienced a case of 18p- syndrome with congenital hypothyroidism in a 16-month-old girl who had microcephaly, flat nasal bridge, failure to thrive, left inguinal hernia and umbilical hernia. The diagnosis was confirmed by physical findings, cytogenetic study, thyroid function test and thyroid scanning. The review of the related literature was made briefly.

Keywords :46 XX; 18p- ; congenital hypothyroidism.