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

Richieri-Costa A, Guion-Almeida ML - Int J Med Sci (2004)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: 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.

No MeSH data available.


Related in: MedlinePlus

Clinical and image aspects of patient 3
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Figure 3: Clinical and image aspects of patient 3


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

Richieri-Costa A, Guion-Almeida ML - Int J Med Sci (2004)

Clinical and image aspects of patient 3
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC1074508&req=5

Figure 3: Clinical and image aspects of patient 3
Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: 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.

No MeSH data available.


Related in: MedlinePlus