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A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss
Article em Ko | WPRIM | ID: wpr-70645
Biblioteca responsável: WPRO
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.
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Texto completo: 1 Índice: WPRIM Assunto principal: Anus Imperfurado / Cromossomos em Anel / Polegar / Retardo do Crescimento Fetal / Audição / Perda Auditiva / Perda Auditiva Neurossensorial / Cardiopatias / Doença de Hirschsprung / Atresia Intestinal Limite: Female / Humans / Newborn Idioma: Ko Revista: Journal of the Korean Society of Neonatology Ano de publicação: 2006 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Anus Imperfurado / Cromossomos em Anel / Polegar / Retardo do Crescimento Fetal / Audição / Perda Auditiva / Perda Auditiva Neurossensorial / Cardiopatias / Doença de Hirschsprung / Atresia Intestinal Limite: Female / Humans / Newborn Idioma: Ko Revista: Journal of the Korean Society of Neonatology Ano de publicação: 2006 Tipo de documento: Article