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  • Title: Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
    Author: Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D.
    Journal: Am J Med Genet A; 2005 Jan 15; 132A(2):189-90. PubMed ID: 15578583.
    Abstract:
    In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffré et al.
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