J Korean Soc Neonatol.  2006 May;13(1):149-153.

A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss

Affiliations
  • 1Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr

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.

Keyword

Ring chromosome; Jejunal atresia

MeSH Terms

Anus, Imperforate
Female
Fetal Growth Retardation
Hearing Loss*
Hearing Loss, Sensorineural
Hearing*
Heart Diseases
Hirschsprung Disease
Humans
Infant, Newborn
Intestinal Atresia*
Ring Chromosomes*
Thumb
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