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

Antonio Richieri-Costa, Maria Leine Guion-Almeida

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
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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


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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