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Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.

Abstract

We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition.

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  • Authors+Show Affiliations

    ,

    University Children's Hospital Vienna, AKH, Department of Neonatology, Austria.

    , , , ,

    Source

    Journal of medical genetics 35:1 1998 Jan pg 61-4

    MeSH

    Abnormalities, Multiple
    Cholestasis
    Dwarfism
    Fractures, Bone
    Growth Disorders
    Humans
    Infant, Newborn
    Kidney Diseases
    Kidney Medulla
    Male
    Microcephaly
    Osteochondrodysplasias
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    9475098

    Citation

    Berger, A, et al. "Neonatal Cholestasis and Focal Medullary Dysplasia of the Kidneys in a Case of Microcephalic Osteodysplastic Primordial Dwarfism." Journal of Medical Genetics, vol. 35, no. 1, 1998, pp. 61-4.
    Berger A, Haschke N, Kohlhauser C, et al. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet. 1998;35(1):61-4.
    Berger, A., Haschke, N., Kohlhauser, C., Amman, G., Unterberger, U., & Weninger, M. (1998). Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. Journal of Medical Genetics, 35(1), pp. 61-4.
    Berger A, et al. Neonatal Cholestasis and Focal Medullary Dysplasia of the Kidneys in a Case of Microcephalic Osteodysplastic Primordial Dwarfism. J Med Genet. 1998;35(1):61-4. PubMed PMID: 9475098.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. AU - Berger,A, AU - Haschke,N, AU - Kohlhauser,C, AU - Amman,G, AU - Unterberger,U, AU - Weninger,M, PY - 1998/2/25/pubmed PY - 1998/2/25/medline PY - 1998/2/25/entrez SP - 61 EP - 4 JF - Journal of medical genetics JO - J. Med. Genet. VL - 35 IS - 1 N2 - We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/9475098/Neonatal_cholestasis_and_focal_medullary_dysplasia_of_the_kidneys_in_a_case_of_microcephalic_osteodysplastic_primordial_dwarfism_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=9475098 DB - PRIME DP - Unbound Medicine ER -