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与未诊断出的I型糖尿病相关的尾椎发育不全序列征的产前诊断

Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes.

作者信息

Palacios-Marqués Ana, Oliver Cecilia, Martín-Bayón Tina, Martinez-Escoriza Juan Carlos

机构信息

Department of Obstetrics and Gynaecology, University General Hospital of Alicante, Alicante, Spain.

出版信息

BMJ Case Rep. 2013 Jun 3;2013:bcr2013009043. doi: 10.1136/bcr-2013-009043.

Abstract

Caudal regression or caudal dysplasia sequence (CDS) is a rare congenital malformation, which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lower limbs. It can be associated to visceral defects in various degrees. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Women with diabetes who are dependent on insulin are 200-400 times more likely to have a child with caudal regression, making CDS the most characteristic fetal abnormality of diabetic embryopathy. Prenatal diagnosis is possible by ultrasonographic examination. The sonographic findings include abrupt interruption of the lumbar spine and 'Buddha or frog position' of the lower limbs. MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders.

摘要

尾椎退化或尾椎发育不全序列征(CDS)是一种罕见的先天性畸形,其包括一系列涉及腰骶椎、骨盆和下肢的肌肉骨骼异常。它可不同程度地伴有内脏缺陷。母体糖尿病、遗传易感性和血管灌注不足被认为是可能的致病因素。依赖胰岛素的糖尿病女性生出患有尾椎退化患儿的可能性要高出200 - 400倍,这使得CDS成为糖尿病胚胎病最具特征性的胎儿异常。产前诊断可通过超声检查实现。超声检查结果包括腰椎的突然中断以及下肢的“佛像或青蛙姿势”。MRI已显示出椎体异常的水平以及相关异常情况,这至关重要,因为这种疾病的预后取决于病变的严重程度以及相关疾病的存在情况。

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