공장 폐쇄와 난청을 동반한 13 고리염색체 증후군 1례
A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss
이진희, 이정현, 전정식,
소속 상세정보
이진희 ( Lee Jin-Hee )
가톨릭대학교 의과대학 소아과학교실
이정현 ( Lee Jung-Hyun )
가톨릭대학교 의과대학 소아과학교실
전정식 ( Chun Chung-Sik )
가톨릭대학교 의과대학 소아과학교실
KMID : 0438520060130010149
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. (J Korean Soc Neonatol 2006;13:149-153)
키워드
Ring chromosome;Jejunal atresia
원문 및 링크아웃 정보
등재저널 정보