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, Donatella Milani

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)189-190
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number2
DOIs
Publication statusPublished - Jan 15 2005

Keywords

  • Microcephaly
  • Radio-ulnar synostosis
  • Tsukahara's syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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