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Osteodysplastic variant of primordial dwarfism.

Abstract

A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

    , ,

    Source

    American journal of medical genetics 40:2 1991 Aug 01 pg 146-50

    MeSH

    Abnormalities, Multiple
    Bone Diseases, Developmental
    Child
    Dwarfism
    Female
    Genes, Recessive
    Humans
    Intellectual Disability
    Phenotype

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    1897566

    Citation

    Shebib, S, et al. "Osteodysplastic Variant of Primordial Dwarfism." American Journal of Medical Genetics, vol. 40, no. 2, 1991, pp. 146-50.
    Shebib S, Hugosson C, Sakati N, et al. Osteodysplastic variant of primordial dwarfism. Am J Med Genet. 1991;40(2):146-50.
    Shebib, S., Hugosson, C., Sakati, N., & Nyhan, W. L. (1991). Osteodysplastic variant of primordial dwarfism. American Journal of Medical Genetics, 40(2), pp. 146-50.
    Shebib S, et al. Osteodysplastic Variant of Primordial Dwarfism. Am J Med Genet. 1991 Aug 1;40(2):146-50. PubMed PMID: 1897566.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Osteodysplastic variant of primordial dwarfism. AU - Shebib,S, AU - Hugosson,C, AU - Sakati,N, AU - Nyhan,W L, PY - 1991/8/1/pubmed PY - 1991/8/1/medline PY - 1991/8/1/entrez SP - 146 EP - 50 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 40 IS - 2 N2 - A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1897566/Osteodysplastic_variant_of_primordial_dwarfism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=40&issue=2&spage=146 DB - PRIME DP - Unbound Medicine ER -