17 May 2008
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ISSN 1449-1907
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17 May 2008
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Int J Med Sci 2004; 1:34-42 ©Ivyspring International Publisher The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brasil 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 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; 1:34-42. Available from: http://www.medsci.org/v01p0034.htm |