Foetal akinesia deformation sequence; a rare lethal entity- A case report

Gulnaz Shafqat, Kulsoom Fatima, Farida Hanif
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Abstract

Foetal akinesia deformation sequence (FADS) represents a group of disorders resulting from absent or diminished in utero foetal mobility. The aetiology is multifactorial, including genetic, environmental, maternal, and foetal causes. The absence of foetal movements leading to multiple joint contractures, pulmonary hypoplasia, and intrauterine growth restriction are the key features of foetal akinesia deformation sequence. Herein we describe the case of a 30-year-old gravida 4 (para 2+1) who came for foetal ultrasound at 28 weeks of gestation due to decreased foetal movements. Ultrasound showed features of FADS with fixed flexed position of foetal limbs, pulmonary hypoplasia, polyhydramnios, and intrauterine growth restriction. The timely use of ultrasound enables early detection of these cases and aids in appropriate counselling and management. Keywords: Foetal arthrogryposis, antenatal, foetal akinesia, ultrasound.
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胎儿运动障碍变形序列;一种罕见的致命物质-一份病例报告
胎儿运动障碍变形序列(FADS)是由子宫内胎儿运动缺失或减少引起的一组疾病。病因是多因素的,包括遗传、环境、母体和胎儿的原因。胎儿运动缺失导致多关节挛缩、肺发育不全和宫内生长受限是胎儿运动障碍变形序列的主要特征。在这里,我们描述的情况下,30岁的孕妇4(第2+1段)谁来了胎儿超声在妊娠28周,由于胎动减少。超声表现为胎儿四肢固定屈曲位,肺发育不全,羊水过多,宫内生长受限。及时使用超声波可以早期发现这些病例,并有助于适当的咨询和管理。关键词:胎儿关节挛缩,产前,胎儿运动障碍,超声。
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