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  • Title: [Thanatophoric dwarfism - prenatal diagnosis of a fatal form of osteochondrodysplasia using ultrasound].
    Author: Merz E, Goldhofer W, Ackermann R, Brockerhoff P, Becker K.
    Journal: Z Geburtshilfe Perinatol; 1983; 187(6):289-92. PubMed ID: 6686741.
    Abstract:
    The report presents the ultrasonographic diagnosis of thanatophoric dwarfism in the 33rd week of pregnancy. This congenital osteochondrodysplasia is characterized by a relatively large head, a narrow thorax, a protuberant abdomen and micromelic limbs, and hydramnios is often present. The early diagnosis of this lethal malformation allows the obstetrician to decide on the appropriate way of delivery.
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