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  • Title: Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
    Author: Loshkajian A, Roume J, Stanescu V, Delezoide AL, Stampf F, Maroteaux P.
    Journal: Am J Med Genet; 1997 Aug 22; 71(3):283-8. PubMed ID: 9268097.
    Abstract:
    We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation. We describe the radiologic and pathologic manifestations in these two cases. This recurrence affecting a male and a female fetus, born to the same couple, suggests autosomal recessive inheritance.
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