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 language | English |
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Pages (from-to) | 451-456 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 37 |
Issue number | 4 |
Publication status | Published - 1990 |
Keywords
- craniosynostectomy
- craniosynostosis
- mental retardation
- omphalocele
- recessive inheritance
ASJC Scopus subject areas
- Genetics(clinical)