A Case of Prenatally Diagnosed Arthrogryposis Multiplex Congenita

Year 2025, Volume: 27 Issue: 1, 105 - 108, 30.04.2025

Şenay Bengin Ertem , Süreyya Sarıdaş Demir , Mustafa Reşorlu , Seda Atmaca Kılın

https://doi.org/10.18678/dtfd.1585103

Abstract

Arthrogryposis multiplex congenita (AMC) is a clinical entity characterized by reduced fetal movements (fetal akinesia), fetal growth restriction (FGR), joint contractures (arthrogryposis), facial anomalies, lung developmental delay (pulmonary hypoplasia), and other developmental abnormalities. It is accepted that this condition is a description of a group of abnormalities resulting from reduced fetal movements rather than a true diagnosis or a specific syndrome. In many arthrogryposis cases, the etiology has not yet been determined. Prenatal diagnosis of AMC is critical for providing adequate counseling to families. When a fetus with multiple congenital contractures is detected on prenatal ultrasound (US), management of the pregnant woman should be undertaken by a multidisciplinary team. In this report, a case of AMC detected in the prenatal period, together with US and fetal magnetic resonance imaging (MRI) findings, was presented.

Keywords

Fetal akinesia, arthrogryposis multiplex congenita, prenatal ultrasound, fetal magnetic resonance imaging

Prenatal Tanı Alan Artrogripozis Multipleks Konjenita Olgusu

Abstract

Artrogripozis multipleks konjenita (AMK), fetal hareketlerde azalma (fetal akinezi), fetal büyüme kısıtlaması (FBK), çoklu eklem kontraktürleri (artrogripozis), yüz anomalileri, akciğerlerde gelişimsel bozukluklar (pulmoner hipoplazi) ve diğer gelişimsel anormalliklerle karakterize bir klinik tablodur. Bu durumun gerçek bir tanı veya spesifik bir sendrom olmadığı, daha ziyade fetal hareketlerde azalma sonucu oluşan bir grup anormalliğin tanımı olduğu genel olarak kabul edilmektedir. Birçok artrogripozis vakasında etiyoloji henüz belirlenememiştir. Ailelere yeterli danışmanlık sağlamak için AMC'nin prenatal tanısı kritik öneme sahiptir. Prenatal ultrasonda (US) multipl konjenital kontraktürleri olan bir fetüs tespit edildiğinde, gebe kadının yönetimi multidisipliner bir ekip tarafından yapılmalıdır. Bu yazıda, prenatal dönemde tespit edilen bir AMK vakası, US ve fetal manyetik rezonans görüntüleme (MRG) bulgularıyla birlikte sunulmuştur.

Keywords

Fetal akinezi, artrogripozis multipleks konjenita, doğum öncesi ultrason, fetal manyetik rezonans görüntüleme

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