Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis

In 1994, Giuffrè 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 Giuffrè et al. © 2004 Wiley‐Liss, Inc.