Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach-Zurich, Switzerland.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):125-30. doi: 10.1016/j.beem.2010.10.015.
Microcephalic or Majewski's osteodysplastic primordial dwarfism type II (MOPD II) represents the most common type of primordial dwarfism. Adult height is typically about one meter and short stature is becoming mildly disproportionate over time with mild skeletal anomalies. Mental development is usually borderline or within the low normal range but cerebrovascular events that are common in childhood can result in significant cognitive impairment and cerebral palsy. Despite cerebrovascular insults, cardiomyopathy and early onset type 2 diabetes contribute to early mortality and morbidity. Common minor clinical features are truncal obesity, high pitched voice, microdontia and pigmentary changes. MOPD II is caused by autosomal recessive loss of function mutations in the PCNT gene encoding for a key centrosomal protein. There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date.
小头或马杰维茨型骨发育不良性原始侏儒症 II 型（MOPD II）是最常见的原始侏儒症类型。成人身高通常约为 1 米，随着时间的推移，身材矮小逐渐变得不成比例，伴有轻度骨骼异常。智力发育通常处于边缘状态或在正常低限范围内，但在儿童期常见的脑血管事件可导致严重的认知障碍和脑瘫。尽管存在脑血管损伤，但心肌病和早发性 2 型糖尿病导致早逝和发病。常见的次要临床特征包括躯干肥胖、音调高、小牙和色素改变。MOPD II 是由编码关键中心体蛋白的 PCNT 基因突变引起的常染色体隐性功能丧失突变引起的。与所谓的 Seckel 综合征存在临床重叠，后者是一组异质性实体，迄今为止已知至少有四个不同的基因座。
