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Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.

Abstract

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause.

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  • Authors+Show Affiliations

    ,

    Institute of Human Genetics and Anthropology, Heinrich-Heine-University, Duesseldorf, Germany.

    Source

    American journal of medical genetics 80:1 1998 Oct 30 pg 25-31

    MeSH

    Child
    Child, Preschool
    Dwarfism
    Facies
    Humans
    Infant
    Infant, Newborn
    Intellectual Disability
    Male
    Microcephaly
    Osteochondrodysplasias
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    9800908

    Citation

    Majewski, F, and T O. Goecke. "Microcephalic Osteodysplastic Primordial Dwarfism Type II: Report of Three Cases and Review." American Journal of Medical Genetics, vol. 80, no. 1, 1998, pp. 25-31.
    Majewski F, Goecke TO. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet. 1998;80(1):25-31.
    Majewski, F., & Goecke, T. O. (1998). Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. American Journal of Medical Genetics, 80(1), pp. 25-31.
    Majewski F, Goecke TO. Microcephalic Osteodysplastic Primordial Dwarfism Type II: Report of Three Cases and Review. Am J Med Genet. 1998 Oct 30;80(1):25-31. PubMed PMID: 9800908.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. AU - Majewski,F, AU - Goecke,T O, PY - 1998/11/4/pubmed PY - 2000/6/20/medline PY - 1998/11/4/entrez SP - 25 EP - 31 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 80 IS - 1 N2 - We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9800908/Microcephalic_osteodysplastic_primordial_dwarfism_type_II:_report_of_three_cases_and_review_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=80&issue=1&spage=25 DB - PRIME DP - Unbound Medicine ER -