"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment

Am J Med Genet. 1990 Dec;37(4):451-6. doi: 10.1002/ajmg.1320370404.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Craniosynostoses / surgery*
  • Female
  • Hernia, Umbilical
  • Humans
  • Infant, Newborn
  • Intellectual Disability / prevention & control*
  • Italy
  • Male
  • Skull / abnormalities*
  • Syndrome