'C' trigonocephaly syndrome: Clinical variability and possibility of surgical treatment

F. Lalatta, D. C. Bagozzi, M. G. Salmoiraghi, P. Tagliabue, C. Tischer, [No Value] Zollino, C. Di Rocco, G. Neri, J. M. Opitz

Research output: Contribution to journalArticlepeer-review

Abstract

We report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the fact that C syndrome is still under-recognized and underdiagnosed. Another patient was diagnosed at birth and immediately submitted to craniosynostectomy. A second operation was performed 7 months later resulting in normal brain growth and close to normal psychomotor development at 3 years, in contrast to the third patient, who was not treated surgically and was severely retarded at 4 years.

Original languageEnglish
Pages (from-to)451-456
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume37
Issue number4
Publication statusPublished - 1990

Keywords

  • craniosynostectomy
  • craniosynostosis
  • mental retardation
  • omphalocele
  • recessive inheritance

ASJC Scopus subject areas

  • Genetics(clinical)

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