Bober Michael B, Jackson Andrew P
Stanley Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
A. I. DuPont Hospital for Children, 1600 Rockland-Road, Wilmington, DE, 19803, USA.
Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1.
This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII).
Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.
本综述将概述小头畸形原发性侏儒症（MPD）类疾病，并为读者提供关于II型小头畸形骨发育不良原发性侏儒症（MOPDII）患者的全面临床综述及建议的护理指南。
在过去15年中，MOPDII的诊断、自然病史及管理方面取得了重大进展。MOPDII是MPD最常见且描述详尽的形式。MPD组的典型特征是严重的产前和产后生长迟缓，并伴有明显的小头畸形。除这些特征外，MOPDII患者还有特征性面容、骨骼发育异常、牙齿异常，以及脑血管疾病和胰岛素抵抗风险增加。中心体蛋白基因的双等位基因功能丧失突变导致MOPDII，其以常染色体隐性方式遗传。
