ISSN: 1449-1907International Journal of Medical Sciences
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Int J Med Sci 2004; 1(1):34-42. doi:10.7150/ijms.1.34 This issue Cite
Case report
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
Citation:
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. https://www.medsci.org/v01p0034.htm
Other stylesAbstract
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
Citation styles
APA
Richieri-Costa, A., Guion-Almeida, M.L. (2004). The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations. International Journal of Medical Sciences, 1(1), 34-42. https://doi.org/10.7150/ijms.1.34.
ACS
Richieri-Costa, A.; Guion-Almeida, M.L. 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.
NLM
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. https://www.medsci.org/v01p0034.htm
CSE
Richieri-Costa A, Guion-Almeida ML. 2004. The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations. Int J Med Sci. 1(1):34-42.
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