Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Michael B Bober, Andrew P Jackson

Research output: Contribution to journalLiterature reviewpeer-review

Abstract / Description of output

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.

Original languageEnglish
JournalCurrent osteoporosis reports
Volume15
Issue number2
Early online date13 Apr 2017
DOIs
Publication statusPublished - Apr 2017

Keywords / Materials (for Non-textual outputs)

  • Journal Article
  • Review

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