Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss‐of‐function variants in PCNT gene, of which one is a novel variant (c.5304delT; p.Gly1769AlafsTer34). The patient presented atypical brain magnetic resonance imaging (MRI) findings consistent with pachygyria. This was confirmed by morphometric analysis of cortical thickness (CT) and gyrification index by comparing MRI data of the patient with a group of eight age‐matched healthy controls. The statistical analysis revealed a significant and diffuse increase of CT with an anterior‐predominant pattern and diffuse reduced gyrification (p < .05). These findings provide new evidences to the emergent concept that malformations of cortical development are complex disorders and that new genetic findings contribute to the fading of classification borders.

中文翻译：

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II型小头畸形性原发性侏儒症和早发型：2岁女孩的形态计量学分析。

II型小头畸形原发性侏儒症（MOPD）是一种罕见疾病，以骨骼发育异常，严重的矮小身材，胰岛素抵抗和脑血管异常（包括脑动脉瘤和烟雾病）为特征。II型MOPD是由percentcentrin（PCNT）基因突变引起的，该基因编码参与中心体功能的蛋白质。我们报告了一个2岁的女孩，它受PCNT中两个复合杂合功能丧失变异导致的II型MOPD影响基因，其中一个是新的变异（c.5304delT; p.Gly1769AlafsTer34）。该患者表现出与早发性脑瘫相符的非典型脑磁共振成像（MRI）发现。通过将患者的MRI数据与一组八个年龄匹配的健康对照进行比较，通过皮层厚度（CT）和回旋指数的形态计量学分析证实了这一点。统计分析表明，CT呈显着性弥漫性增高，并以前为主模式，弥散性回旋降低（p  <.05）。这些发现为新出现的概念提供了新的证据，即皮层发育的畸形是复杂的疾病，新的遗传发现有助于分类边界的消失。