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  • Title: Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound.
    Author: Ramirez M, Hecht JT, Taylor S, Wilkins I.
    Journal: Prenat Diagn; 1994 Mar; 14(3):167-71. PubMed ID: 8052563.
    Abstract:
    The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16.5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.
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