Phenotypic variability in the Nager syndrome. Report of 4 unrelated patients: A collaborative study

L. Pavone, B. Dallapiccola, R. Rizzo, T. Mattina, L. Zelante, L. Fabris, L. Giuffre, G. Corsello, A. Tine

Research output: Contribution to journalArticle

Abstract

Nager's syndrome is an acrofacial dysostosis originally described as a variant of mandibulofacial dysostosis of Treacher Collins. The major clinical features are malar hypoplasia, micrognathia, and radial limb defects. Four additional unrelated patients are reported presenting with different clinical features. These observations point to a remarkable variability in the manifestations of this syndrome.

Original languageEnglish
Pages (from-to)294-302
Number of pages9
JournalBrain Dysfunction
Volume1
Issue number5-6
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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    Pavone, L., Dallapiccola, B., Rizzo, R., Mattina, T., Zelante, L., Fabris, L., Giuffre, L., Corsello, G., & Tine, A. (1988). Phenotypic variability in the Nager syndrome. Report of 4 unrelated patients: A collaborative study. Brain Dysfunction, 1(5-6), 294-302.