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  • Title: Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome.
    Author: Rugolo S, Cavallaro A, Giuffrida L, Cianci A.
    Journal: Minerva Ginecol; 2007 Feb; 59(1):91-4. PubMed ID: 17353878.
    Abstract:
    Stüve-Wiedemann syndrome (SWS) is an extremely rare congenital skeletal disorder associated with significant newborn mortality and morbidity in survivors. Prenatal diagnosis is reportedly possible, but a precise diagnosis is difficult because SWS is part of a heterogeneous group of bone dysplasias. Molecular analysis remains the gold standard for establishing a specific diagnosis of this kind of disorders and for providing effective prenatal counselling. This article presents a case of SWS suspected at prenatal ultrasound in the second trimester of pregnancy and confirmed by multidisciplinary approach at birth.
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