• Am. J. Med. Genet. A · Jan 2005

    Review Case Reports

    Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

    • Angelo Selicorni, Alessandra Ferrarini, Giacomo Cagnoli, Alessia Fratoni, Michaela Bottigelli, and Donatella Milani.
    • Clinica Pediatrica De Marchi, I Clinica Pediatrica, Milano, Italy. ambulatorio@gencli.it
    • Am. J. Med. Genet. A. 2005 Jan 15; 132A (2): 189-90.

    AbstractIn 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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