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13.04.2017 | Rare Bone Disease (C Langman and E Shore, Section Editors) | Ausgabe 2/2017 Open Access

Current Osteoporosis Reports 2/2017

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Zeitschrift:
Current Osteoporosis Reports > Ausgabe 2/2017
Autoren:
Michael B. Bober, Andrew P. Jackson
Wichtige Hinweise
This article is part of the Topical Collection on Rare Bone Disease
An erratum to this article is available at https://​doi.​org/​10.​1007/​s11914-017-0389-5.

Abstract

Purpose of the Review

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).

Recent Findings

Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII.

Summary

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.

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Literatur
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