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Microcephalic, osteodysplastic, primordial dwarfism.

Abstract

A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.

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  • Authors+Show Affiliations

    ,

    Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.

    , ,

    Source

    Australasian radiology 37:1 1993 Feb pg 111-4

    MeSH

    Abnormalities, Multiple
    Brain
    Dwarfism
    Female
    Humans
    Infant, Newborn
    Microcephaly
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    8323498

    Citation

    Kozlowski, K, et al. "Microcephalic, Osteodysplastic, Primordial Dwarfism." Australasian Radiology, vol. 37, no. 1, 1993, pp. 111-4.
    Kozlowski K, Donovan T, Masel J, et al. Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol. 1993;37(1):111-4.
    Kozlowski, K., Donovan, T., Masel, J., & Wright, R. G. (1993). Microcephalic, osteodysplastic, primordial dwarfism. Australasian Radiology, 37(1), pp. 111-4.
    Kozlowski K, et al. Microcephalic, Osteodysplastic, Primordial Dwarfism. Australas Radiol. 1993;37(1):111-4. PubMed PMID: 8323498.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic, osteodysplastic, primordial dwarfism. AU - Kozlowski,K, AU - Donovan,T, AU - Masel,J, AU - Wright,R G, PY - 1993/2/1/pubmed PY - 1993/2/1/medline PY - 1993/2/1/entrez SP - 111 EP - 4 JF - Australasian radiology JO - Australas Radiol VL - 37 IS - 1 N2 - A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities. SN - 0004-8461 UR - https://www.unboundmedicine.com/medline/citation/8323498/Microcephalic_osteodysplastic_primordial_dwarfism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0004-8461&date=1993&volume=37&issue=1&spage=111 DB - PRIME DP - Unbound Medicine ER -