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  • Title: Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
    Author: Nadjari M, Fasouliotis SJ, Ariel I, Raas-Rothschild A, Bar-Ziv J, Elchalal U.
    Journal: Prenat Diagn; 2000 Aug; 20(8):666-9. PubMed ID: 10951479.
    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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