Article
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Clinical genetics - 1 Jun 2024
Turgut Gozde Tutku, Altunoglu Umut, Gulec Cagri, Sarac Sivrikoz Tugba, Kalaycı Tuğba, Toksoy Guven, Avcı Şahin, Yıldırım Behiye Tuğçe, Sayın Gözde Yeşil, Kalelioglu Ibrahim Halil, Karaman Birsen, Has Recep, Başaran Seher, Yuksel Atil, Kayserili Hülya, Uyguner Zehra Oya
Abstract excerpt
Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common...
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