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Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

Abstract

Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V-shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. ryuji.fukuzawa@stonebow.otago.ac.nz

    , , , ,

    Source

    American journal of medical genetics 113:1 2002 Nov 15 pg 93-6

    MeSH

    Abnormalities, Multiple
    Adult
    Asian Continental Ancestry Group
    Autopsy
    Birth Weight
    Cesarean Section
    Dwarfism
    Female
    Humans
    Infant
    Infant, Newborn
    Japan
    Male
    Microcephaly

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    12400072

    Citation

    Fukuzawa, Ryuji, et al. "Autopsy Case of Microcephalic Osteodysplastic Primordial "dwarfism" Type II." American Journal of Medical Genetics, vol. 113, no. 1, 2002, pp. 93-6.
    Fukuzawa R, Sato S, Sullivan MJ, et al. Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. Am J Med Genet. 2002;113(1):93-6.
    Fukuzawa, R., Sato, S., Sullivan, M. J., Nishimura, G., Hasegawa, T., & Matsuo, N. (2002). Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. American Journal of Medical Genetics, 113(1), pp. 93-6.
    Fukuzawa R, et al. Autopsy Case of Microcephalic Osteodysplastic Primordial "dwarfism" Type II. Am J Med Genet. 2002 Nov 15;113(1):93-6. PubMed PMID: 12400072.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. AU - Fukuzawa,Ryuji, AU - Sato,Seiji, AU - Sullivan,Michael J, AU - Nishimura,Gen, AU - Hasegawa,Tomonobu, AU - Matsuo,Nobutake, PY - 2002/10/26/pubmed PY - 2003/3/27/medline PY - 2002/10/26/entrez SP - 93 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 113 IS - 1 N2 - Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V-shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12400072/Autopsy_case_of_microcephalic_osteodysplastic_primordial_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=113&issue=1&spage=93 DB - PRIME DP - Unbound Medicine ER -