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  • Title: Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
    Author: Wang TR, Lin SJ.
    Journal: Am J Med Genet; 1987 Oct; 28(2):471-5. PubMed ID: 3425620.
    Abstract:
    We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.
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