A Case of Hypoglossia-Hypodactylia with t(3q;19p).
- Author:
Hei Won HWANG
1
;
Ji Sun MOK
;
Ji Eun KIM
;
Dong Suk LEE
;
Doo Kwun KIM
;
Sung Min CHOI
;
Woo Taek KIM
Author Information
1. Department of Pediatrics, College of Medicine, Dongguk University, Kyungju, Korea. dryellow@hanmail.net
- Publication Type:Case Report
- Keywords:
Micrognathia;
Hypoglossia;
Hypodactylia;
46;
XY;
t(3;
19)(q22;
p12)
- MeSH:
Extremities;
Humans;
Infant, Newborn;
Karyotype;
Korea;
Male
- From:Journal of the Korean Pediatric Society
2001;44(11):1311-1315
- CountryRepublic of Korea
- Language:Korean
-
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.
