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Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

Abstract

We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Genetics, Sart Tilman University Hospital Center, University of Liège, Belgium.

    , ,

    Source

    Clinical genetics 32:2 1987 Aug pg 88-94

    MeSH

    Diseases in Twins
    Dwarfism
    Female
    Fetal Growth Retardation
    Genes, Recessive
    Humans
    Infant, Newborn
    Male
    Microcephaly
    Pedigree
    Pregnancy
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    3652495

    Citation

    Verloes, A, et al. "Microcephalic Osteodysplastic Dwarfism (type II-like) in Siblings." Clinical Genetics, vol. 32, no. 2, 1987, pp. 88-94.
    Verloes A, Lambrechts L, Senterre J, et al. Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clin Genet. 1987;32(2):88-94.
    Verloes, A., Lambrechts, L., Senterre, J., & Lambotte, C. (1987). Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clinical Genetics, 32(2), pp. 88-94.
    Verloes A, et al. Microcephalic Osteodysplastic Dwarfism (type II-like) in Siblings. Clin Genet. 1987;32(2):88-94. PubMed PMID: 3652495.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic osteodysplastic dwarfism (type II-like) in siblings. AU - Verloes,A, AU - Lambrechts,L, AU - Senterre,J, AU - Lambotte,C, PY - 1987/8/1/pubmed PY - 1987/8/1/medline PY - 1987/8/1/entrez SP - 88 EP - 94 JF - Clinical genetics JO - Clin. Genet. VL - 32 IS - 2 N2 - We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/3652495/Microcephalic_osteodysplastic_dwarfism__type_II_like__in_siblings_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1987&volume=32&issue=2&spage=88 DB - PRIME DP - Unbound Medicine ER -