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  • Title: Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome.
    Author: Williams CA, Cantú ES, Frías JL.
    Journal: Am J Med Genet; 1986; 23(1-2):207-11. PubMed ID: 2420177.
    Abstract:
    A 14-month-old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.
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