Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Gozde Tutku Turgut,
Umut Altunoglu,
Cagri Gulec
et al.
Abstract: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 prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhyd… Show more
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