International Journal of Medical Sciences

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23 October 2017

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Int J Med Sci 2004; 1(1):34-42. doi:10.7150/ijms.1.34

The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations

Antonio Richieri-Costa , Maria Leine Guion-Almeida

Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brasil

Abstract

We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.

Keywords: Morning glory syndrome, frontonasal dysplasia, CNS midline anomalies

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How to cite this article:
Richieri-Costa A, Guion-Almeida ML. The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations. Int J Med Sci 2004; 1(1):34-42. doi:10.7150/ijms.1.34. Available from http://www.medsci.org/v01p0034.htm