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  • Title: Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
    Author: dos Santos Rde C, Castro NH, Ferraz OP, Walter-Moura J, Mustachi Z, Pagnan NA, Gollop TR.
    Journal: Am J Med Genet; 1992 Aug 01; 43(6):946-8. PubMed ID: 1415344.
    Abstract:
    We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.
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