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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

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.

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  • Authors+Show Affiliations

    ,

    Stanley Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Michael.Bober@nemours.org. A. I. DuPont Hospital for Children, 1600 Rockland-Road, Wilmington, DE, 19803, USA. Michael.Bober@nemours.org.

    MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

    Source

    Current osteoporosis reports 15:2 2017 04 pg 61-69

    MeSH

    Disease Management
    Dwarfism
    Fetal Growth Retardation
    Humans
    Microcephaly
    Osteochondrodysplasias

    Pub Type(s)

    Journal Article
    Review
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    28409412

    Citation

    Bober, Michael B., and Andrew P. Jackson. "Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review." Current Osteoporosis Reports, vol. 15, no. 2, 2017, pp. 61-69.
    Bober MB, Jackson AP. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep. 2017;15(2):61-69.
    Bober, M. B., & Jackson, A. P. (2017). Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Current Osteoporosis Reports, 15(2), pp. 61-69. doi:10.1007/s11914-017-0348-1.
    Bober MB, Jackson AP. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep. 2017;15(2):61-69. PubMed PMID: 28409412.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. AU - Bober,Michael B, AU - Jackson,Andrew P, PY - 2017/4/15/pubmed PY - 2018/3/14/medline PY - 2017/4/15/entrez KW - MOPDII KW - Pericentrin KW - Primordial dwarfism SP - 61 EP - 69 JF - Current osteoporosis reports JO - Curr Osteoporos Rep VL - 15 IS - 2 N2 - 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. SN - 1544-2241 UR - https://www.unboundmedicine.com/medline/citation/28409412/Microcephalic_Osteodysplastic_Primordial_Dwarfism_Type_II:_a_Clinical_Review_ L2 - https://dx.doi.org/10.1007/s11914-017-0348-1 DB - PRIME DP - Unbound Medicine ER -