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

E. Espinosa-García, Natalia Martínez-Córdoba
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引用次数: 0

摘要

OEIS复合体是一组多态缺陷,在世界范围内发病率和流行率都很低。它与胚胎早期发生的表观遗传和遗传原因有关,导致4种典型畸形,包括脐膨出、膀胱/泄殖腔外翻、肛门闭锁和脊髓损伤。脊柱裂,耻骨联合移位和肢体异常也可能被观察到。病例介绍:7个月大的女性患者(撰写本报告时)。这位母亲来自哥伦比亚的农村地区,这是她第三次怀孕,产科并发症的风险很高。婴儿在产前被诊断为腹壁尾侧折叠缺陷和脂肪脊膜膨出。出生时,观察到膀胱外翻,肛门闭锁和脊柱畸形,导致诊断为OEIS综合征。启动了相关的跨学科管理。结论:OEIS复合体是一种具有特征性体征和缺陷的胎儿多形畸形。了解其发病机制、产前产后诊断、遗传咨询和治疗方法,有利于早期治疗不同的合并症,减轻急性症状,减少多种合并症,提高患者的生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
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