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KMID : 0438520060130010149
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Journal of the Korean Society of Neonatology
2006 Volume.13 No. 1 p.149 ~ p.153
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A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss
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Lee Jin-Hee
Lee Jung-Hyun
Chun Chung-Sik
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Abstract
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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)
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KEYWORD
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Ring chromosome, Jejunal atresia
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