Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.

ABSTRACT:

Background

Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying feature. The etiology of FADS is heterogeneous and mostly still unknown. A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology. However, the recent advances of next-generation sequencing (NGS) can effectively provide a definitive molecular diagnosis.

Case summary

A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs. The mother had had a previous abortion due to a similarly affected fetus a year before. A clinical diagnosis of FADS was made. The parents refused cord blood examination and chose abortion. A molecular diagnosis of f

SUBMITTER: Li N 

PROVIDER: S-EPMC6854405 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature