Restrictive dermopathy (RD) is a rare disorder causing stillbirth or early neonatal death. Mutations in ZMPSTE24 and LMNA genes are reported as the causes of RD. In this report, we identified two novel, biparental-origin mutations of ZMPSTE24 gene in a family with two consecutive pregnancies demonstrated with prenatal ultrasonography features of RD. Considering the lethal outcome of RD, molecular genetic analysis has been applied in the prenatal diagnosis of their second affected fetus and the subsequent pregnancy. Moreover, we summarized the prenatal and postnatal features of RD patients, as well as pathogenic mutations described in the literature. Better awareness of clinical features and molecular pathogenesis of RD could be of significance in prenatal diagnosis and appropriate management of the disorder.

中文翻译：

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ZMPSTE24基因新突变引起的限制性皮肤病的产前诊断以及文献中描述的临床特征和致病突变的综述

限制性皮肤病（RD）是导致死产或新生儿早期死亡的罕见疾病。在突变ZMPSTE24和LMNA基因被报告为RD的原因。在本报告中，我们鉴定了ZMPSTE24的两个新颖的双亲起源突变一个连续两次怀孕的家庭中，该基因具有RD的产前超声检查特征。考虑到RD的致死结果，分子遗传学分析已应用于第二胎和随后的妊娠的产前诊断。此外，我们总结了RD患者的产前和产后特征，以及文献中描述的致病突变。更好地了解RD的临床特征和分子发病机制可能对疾病的产前诊断和适当治疗具有重要意义。