%0 Journal Article
%T Giant omphalocele: report of a case
%A Rivas-Perdomo Edgar
%A Mendivil-Ci車daro C谷sar
%J Revista Ciencias Biom谷dicas
%D 2012
%I Universidad de Cartagena
%X Introduction: omphalocele is a malformation that can be presented isolated or as partof a syndrome. Although it is sporadic, cases of familiar inheritance have been informed.The majority of the cases of Omphalocele are sporadic and the risk of recurrence isless than 1%. There aren∩t specific etiologic factors. In studies of population, greaterincidence has been found between younger mothers, for what effective preventivemeasures can∩t be taken. In view of the presence of Omphalocele, others congenitalanomalies should be searched.Clinical case: patient with 16-weeks pregnancy and fetus with atypical presentation of Omphalocele that caused suspicion of the existence of Prune-Belly Syndrome due tothe presence of a large cyst in abdominal wall. The definitive diagnosis was establishedby pathological anatomy. Fetal karyotype was normal.Conclusion: without definitive etiologic factors had been determinated for omphalocele,it can be presented like a syndrome, for what associated congenital anomalies shouldbe searched. Rev.cienc.biomed.2012;3(2):355-359RESUMEN:Introducci車n: el onfalocele es una malformaci車n que puede presentarse aislada ocomo parte de un s赤ndrome. Aunque es espor芍dico, se han informado casos de herenciafamiliar. La mayor赤a de los casos de onfalocele son espor芍dicos y el riesgo de recurrenciaes menor del 1%. No hay factores etiol車gicos espec赤ficos. En estudios de poblaci車n seha encontrado mayor incidencia entre las madres m芍s j車venes, por lo cual no se puedentomar medidas preventivas eficaces. Ante la presencia de onfalocele, deben buscarseotras anomal赤as cong谷nitas.Caso cl赤nico: paciente con embarazo de 16 semanas y feto con presentaci車n at赤pica deonfalocele, que hizo sospechar la existencia de s赤ndrome de Prune-Belly, por la presenciade un quiste grande en pared abdominal. El diagn車stico definitivo fue establecido poranatom赤a patol車gica. Cariotipo fetal normal.Conclusiones: sin que se hayan determinado factores etiol車gicos definitivos para elmismo, el onfalocele puede presentarse como un s赤ndrome, por lo que deben buscarseanomal赤as cong谷nitas asociadas. Rev.cienc.biomed. 2012;3(2):355-359
%K Omphalocele
%K Gastroschisis
%K Abdominal wall
%K Congenital malformations
%K Prune-Belly syndrome.
%U http://www.revistacienciasbiomedicas.com/index.php/revciencbiomed/article/view/224/182