Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Division of Genetic Medicine, Lausanne University Hospital (CHUV), CH-1011 Lausanne, Switzerland.
Genes (Basel). 2022 Jan 28;13(2):261. doi: 10.3390/genes13020261.
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.
颅骨骨质增生症（OCS，OMIM #602361）是一种严重的、通常致命的疾病，其特征是骨骼脆弱，骨干细，颅骨呈三叶形，脾脏发育不良或缺失。该病由 基因的杂合突变引起，与非致死性、显性疾病肯尼-卡菲综合征（KCS，OMIM #127000）等位相关。本文报道了两例新的 OCS 病例，其中一例进行了详细的病理检查。我们根据观察结果和文献综述了产前和产后 OCS 的主要诊断特征。然后，我们回顾了与 OCS 或 KCS 相关的 基因突变的突变谱，包括三个新的变体，一个来自于本文描述的 OCS 胎儿，另一个来自于我们中心诊断的其他病例。本报告完善了之前对 OCS 的认识，并扩展了导致 OCS 或 KCS 的突变谱。
