A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss.
- Author:
Jin Hee LEE
1
;
Jung Hyun LEE
;
Chung Sik CHUN
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Ring chromosome;
Jejunal atresia
- MeSH:
Anus, Imperforate;
Female;
Fetal Growth Retardation;
Hearing Loss*;
Hearing Loss, Sensorineural;
Hearing*;
Heart Diseases;
Hirschsprung Disease;
Humans;
Infant, Newborn;
Intestinal Atresia*;
Ring Chromosomes*;
Thumb
- From:Journal of the Korean Society of Neonatology
2006;13(1):149-153
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A ring chromosome 13 was found in newborn female with multiple congenital anomalies suggestive of 13q-syndrome. She presented with intrauterine growth retardation, agenesis of thumbs, craniofacial anomalies, congenital heart diseases, CNS, gastrointestinal anomalies which are imperforate anus and jejunal atresia and sensorineural hearing loss. To our knowledge, there have been several reports on 13q-syndrome with congenital megacolon or imperforate anus at home and abroad. However, the case presenting with jejunal atresia and hearing loss has not been described previously in the country. We report this case with a brief review of the correlation between clinical features and the observed chromosome abberation.
