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  • Title: Neonatal manifestations of Schwartz-Jampel syndrome.
    Author: Farrell SA, Davidson RG, Thorp P.
    Journal: Am J Med Genet; 1987 Aug; 27(4):799-805. PubMed ID: 3321990.
    Abstract:
    Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.
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