All issues > Volume 44(11); 2001

Case Report

J Korean Pediatr Soc. 2001;44(11):1311-1315. Published online November 15, 2001.

A Case of Hypoglossia-Hypodactylia with t(3q;19p)

Hei-Won HW Hwang¹, Ji-Sun JS Mok¹, Ji-Eun JE Kim¹, Dong-Suk DS Lee¹, Doo-Kwun DK Kim¹, Sung-Min SM Choi¹, Woo-Taek WT Kim²

¹Department of Pediatrics, College of Medicine, Dongguk University, Kyungju, Korea
²Department of Pediatrics, College of Medicine, The Catholic University of Taegu, Korea

Correspondence Hei-Won HW Hwang ,Email: dryellow@hanmail.net

Abstract

Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb hypogenesis syndromes. According to the studies, most of the cases are sporadic, and this is known to be due to the dominant mutant gene. Etiology is still unknown, but a number of theories have been proposed, such as intrauterine damage and vascular distruptive mechanism. We report a case on hypoglossia-hypodactylia syndrome in a male neonate with karyotype showing 46,XY,t(3;19)(q22;p12) with the review of the associated literatures.

Keywords :Micrognathia, Hypoglossia, Hypodactylia, 46,XY,t(3;19)(q22;p12)