Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

Jeanette Ramer, M. J. Mascari, E. Manders, R. L. Ladda

Research output: Contribution to journalArticle

9 Scopus citations


We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.

Original languageEnglish (US)
Pages (from-to)15-20
Number of pages6
JournalDysmorphology and Clinical Genetics
Issue number1
StatePublished - 1992


All Science Journal Classification (ASJC) codes

  • Anatomy
  • Genetics(clinical)

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