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Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

Abstract

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear.

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    MeSH

    Child
    Child, Preschool
    Dwarfism
    Face
    Female
    Femur
    Fetal Growth Retardation
    Humans
    Intellectual Disability
    Male
    Microcephaly
    Pregnancy
    Radius
    Syndrome
    Ulna

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    7201238

    Citation

    Majewski, F, et al. "Studies of Microcephalic Primordial Dwarfism II: the Osteodysplastic Type II of Primordial Dwarfism." American Journal of Medical Genetics, vol. 12, no. 1, 1982, pp. 23-35.
    Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet. 1982;12(1):23-35.
    Majewski, F., Ranke, M., & Schinzel, A. (1982). Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. American Journal of Medical Genetics, 12(1), pp. 23-35.
    Majewski F, Ranke M, Schinzel A. Studies of Microcephalic Primordial Dwarfism II: the Osteodysplastic Type II of Primordial Dwarfism. Am J Med Genet. 1982;12(1):23-35. PubMed PMID: 7201238.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. AU - Majewski,F, AU - Ranke,M, AU - Schinzel,A, PY - 1982/5/1/pubmed PY - 1982/5/1/medline PY - 1982/5/1/entrez SP - 23 EP - 35 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 12 IS - 1 N2 - We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7201238/Studies_of_microcephalic_primordial_dwarfism_II:_the_osteodysplastic_type_II_of_primordial_dwarfism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=12&issue=1&spage=23 DB - PRIME DP - Unbound Medicine ER -