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Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
Prenat Diagn 2000; 20(8):666-9PD

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

    Nadjari M
    Department of Obstetrics and Gynecology, Hadassah Ein-Kerem Medical Center, The Hebrew University Medical School, Jerusalem, Israel.
    Fasouliotis SJ
    No affiliation info available
    Ariel I
    No affiliation info available
    Raas-Rothschild A
    No affiliation info available
    Bar-Ziv J
    No affiliation info available
    Elchalal U
    No affiliation info available

    MeSH

    Abnormalities, MultipleAbortion, InducedAdultDwarfismFemaleFetal Growth RetardationGestational AgeHumansMaleMicrocephalyOsteochondrodysplasiasPregnancyUltrasonography, 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 -