Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Axel Bohring, Margherita Silengo, Margherita Lerone, Duane W. Superneau, Christiane Spaich, Stephen R. Braddock, Alexis Poss, John M. Opitz

Research output: Contribution to journalArticle

Abstract

We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated.

Original languageEnglish
Pages (from-to)438-446
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume85
Issue number5
DOIs
Publication statusPublished - Aug 27 1999

Keywords

  • C syndrome
  • Nosology
  • Trigonocephaly

ASJC Scopus subject areas

  • Genetics(clinical)

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