Journal of the Korean Pediatric Society 2001;44(11):1311-1315.
Published online November 15, 2001.
A Case of Hypoglossia-Hypodactylia with t(3q;19p)
Hei-Won Hwang1, Ji-Sun Mok1, Ji-Eun Kim1, Dong-Suk Lee1, Doo-Kwun Kim1, Sung-Min Choi1, Woo-Taek Kim2
1Department of Pediatrics, College of Medicine, Dongguk University, Kyungju, Korea
2Department of Pediatrics, College of Medicine, The Catholic University of Taegu, Korea
상호전위 t(3q;19p)를 동반한 Hypoglossia-Hypodactylia 증후군 1례
황혜원1, 목지선1, 김지은1, 이동석1, 김두권1, 최성민1, 김우택2
1동국대학교 의과대학 소아과학교실
2대구카톨릭대학교 의과대학 소아과학교실
Correspondence: 
Hei-Won 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.
Key Words: Micrognathia, Hypoglossia, Hypodactylia, 46,XY,t(3, 19)(q22, p12)


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