Literature DB >> 2260586

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

F Lalatta1, D Clerici Bagozzi, M G Salmoiraghi, P Tagliabue, C Tischer, M Zollino, C Di Rocco, G Neri, J M Opitz.   

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.

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Year:  1990        PMID: 2260586     DOI: 10.1002/ajmg.1320370404

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.

Authors:  Laura Travan; Vanna Pecile; Mariacristina Fertz; Antonella Fabretto; Pierpaolo Brovedani; Sergio Demarini; John M Opitz
Journal:  J Med Case Rep       Date:  2011-06-21
  1 in total

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