A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation

摘要

Fetal restrictive dermopathy (RD) is a rare lethal condition and should be distinguished from other syndromes characterized by fetal akinesia deformation sequence. Fetal RD shows nonspecific ultrasonographic findings, including polyhydramnios, premature rupture of membrane, and fetal growth restriction. Recently, LMNA and ZMPSTE24 were identified as causative genes offering an opportunity for prenatal genetic diagnosis. We describe a premature newborn boy who presented with rigid skin and typical facial findings. The clinical and histologic diagnosis was confirmed as RD. Molecular genetic analysis revealed a compound heterozygous mutation of the ZMPSTE24 gene.