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  • Title: Parental consanguinity in two sibs with omodysplasia.
    Author: Baxová A, Maroteaux P, Barosová J, Netriová I.
    Journal: Am J Med Genet; 1994 Feb 01; 49(3):263-5. PubMed ID: 8209882.
    Abstract:
    Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance.
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