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Current Osteoporosis Reports
Erschienen in: Current Osteoporosis Reports 2/2017

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

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

verfasst von: Michael B. Bober, Andrew P. Jackson

Erschienen in: Current Osteoporosis Reports | Ausgabe 2/2017

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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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Metadaten
Titel
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
verfasst von
Michael B. Bober
Andrew P. Jackson
Publikationsdatum
13.04.2017
Verlag
Springer US
Erschienen in
Current Osteoporosis Reports / Ausgabe 2/2017
Print ISSN: 1544-1873
Elektronische ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-017-0348-1

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