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Review
. 2017 Apr;15(2):61-69.
doi: 10.1007/s11914-017-0348-1.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Michael B Bober  1   2 , Andrew P Jackson  3
Affiliations
Review

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Michael B Bober et al. Curr Osteoporos Rep. 2017 Apr.

Erratum in

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. 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.

Keywords: MOPDII; Pericentrin; Primordial dwarfism.

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Conflict of interest statement

Conflict of Interest

Michael Bober reports grants and other from Walking With Giants Foundation, grants from Potentials Foundation, outside the submitted work. Andrew Jackson’s work is supported by funding from MRC and ERC (281847).

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Figures

Fig. 1
Fig. 1
Characteristic features of MOPDII. a Patient 1. A 7-week-old female with MOPDII. Mesomelic shortening, mild widening of the nasal bridge, and abroad nasal root are present. b Patient 2. An 18-month-old female with MOPDII. The nasal bridge is widened and the columella lies below the alae nasi. c Patient 3. A 7-year-old female with MOPDII. In the frontal view, the nose is prominent, with a wide bridge and broad root. The nasal tip is full and the columella lies below the alae nasi. The palpebral fissures are down slanting. d Patient 3. In profile, the absence of a sloping forehead, simple pinna with attached lobes, and nasal prominence can be seen. e AP radiograph of a 26-month-old female demonstrating the distal femoral metaphyses inverted V-shape (bottom arrow) and coxa vara on the right (top arrow). f AP radiograph of a 13-year-old female demonstrating scoliosis. Photographs were provided by the authors with written permission
See this image and copyright information in PMC

References

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