Tags

Type your tag names separated by a space and hit enter

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Abstract

The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation.

Links

  • PMC Free PDF
  • PMC Free Full Text
  • FREE Publisher Full Text
  • Authors+Show Affiliations

    ,

    Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.

    Source

    Journal of medical genetics 28:11 1991 Nov pg 795-800

    MeSH

    Dwarfism
    Female
    Genes, Recessive
    Humans
    Infant
    Infant, Newborn
    Intellectual Disability
    Male
    Microcephaly
    Osteochondrodysplasias
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    1770539

    Citation

    Meinecke, P, and E Passarge. "Microcephalic Osteodysplastic Primordial Dwarfism Type I/III in Sibs." Journal of Medical Genetics, vol. 28, no. 11, 1991, pp. 795-800.
    Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet. 1991;28(11):795-800.
    Meinecke, P., & Passarge, E. (1991). Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. Journal of Medical Genetics, 28(11), pp. 795-800.
    Meinecke P, Passarge E. Microcephalic Osteodysplastic Primordial Dwarfism Type I/III in Sibs. J Med Genet. 1991;28(11):795-800. PubMed PMID: 1770539.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. AU - Meinecke,P, AU - Passarge,E, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 795 EP - 800 JF - Journal of medical genetics JO - J. Med. Genet. VL - 28 IS - 11 N2 - The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/1770539/Microcephalic_osteodysplastic_primordial_dwarfism_type_I/III_in_sibs_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=1770539 DB - PRIME DP - Unbound Medicine ER -