Premium
Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis
Author(s) -
Selicorni Angelo,
Ferrarini Alessandra,
Cagnoli Giacomo,
Fratoni Alessia,
Bottigelli Michaela,
Milani Donatella
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30415
Subject(s) - microcephaly , synostosis , medicine , anatomy , pediatrics
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.