{"title":"OEIS复合体(脐膨出、膀胱外翻、肛门缺损和脊柱缺损),一个比想象的更混乱的实体。个案报告","authors":"E. Espinosa-García, Natalia Martínez-Córdoba","doi":"10.15446/CR.V7N1.85912","DOIUrl":null,"url":null,"abstract":"Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed.\nCase presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated.\nConclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre-and postnatal diagnosis, genetic counseling, and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"50 1","pages":"41-49"},"PeriodicalIF":0.0000,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Complejo OEIS (onfalocele, extrofia vesical, ano imperforado y defectos espinales), una entidad más confusa de lo que se cree. Reporte de caso\",\"authors\":\"E. Espinosa-García, Natalia Martínez-Córdoba\",\"doi\":\"10.15446/CR.V7N1.85912\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed.\\nCase presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated.\\nConclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre-and postnatal diagnosis, genetic counseling, and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.\",\"PeriodicalId\":73637,\"journal\":{\"name\":\"Journal of cardiology case reports\",\"volume\":\"50 1\",\"pages\":\"41-49\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-04-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of cardiology case reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15446/CR.V7N1.85912\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of cardiology case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15446/CR.V7N1.85912","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Complejo OEIS (onfalocele, extrofia vesical, ano imperforado y defectos espinales), una entidad más confusa de lo que se cree. Reporte de caso
Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed.
Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated.
Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre-and postnatal diagnosis, genetic counseling, and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.