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Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.

Abstract

Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.

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  • Authors+Show Affiliations

    ,

    Department of Obstetrics and Gynecology, Hadassah Ein-Kerem Medical Center, The Hebrew University Medical School, Jerusalem, Israel.

    , , , ,

    Source

    Prenatal diagnosis 20:8 2000 Aug pg 666-9

    MeSH

    Abnormalities, Multiple
    Abortion, Induced
    Adult
    Dwarfism
    Female
    Fetal Growth Retardation
    Gestational Age
    Humans
    Male
    Microcephaly
    Osteochondrodysplasias
    Pregnancy
    Ultrasonography, Prenatal

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    10951479

    Citation

    Nadjari, M, et al. "Ultrasonographic Prenatal Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Types I/III." Prenatal Diagnosis, vol. 20, no. 8, 2000, pp. 666-9.
    Nadjari M, Fasouliotis SJ, Ariel I, et al. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. Prenat Diagn. 2000;20(8):666-9.
    Nadjari, M., Fasouliotis, S. J., Ariel, I., Raas-Rothschild, A., Bar-Ziv, J., & Elchalal, U. (2000). Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. Prenatal Diagnosis, 20(8), pp. 666-9.
    Nadjari M, et al. Ultrasonographic Prenatal Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Types I/III. Prenat Diagn. 2000;20(8):666-9. PubMed PMID: 10951479.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. AU - Nadjari,M, AU - Fasouliotis,S J, AU - Ariel,I, AU - Raas-Rothschild,A, AU - Bar-Ziv,J, AU - Elchalal,U, PY - 2000/8/22/pubmed PY - 2000/9/9/medline PY - 2000/8/22/entrez SP - 666 EP - 9 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 20 IS - 8 N2 - Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/10951479/Ultrasonographic_prenatal_diagnosis_of_microcephalic_osteodysplastic_primordial_dwarfism_types_I/III_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=2000&volume=20&issue=8&spage=666 DB - PRIME DP - Unbound Medicine ER -