The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations.
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ABSTRACT:
SUBMITTER: Richieri-Costa A
PROVIDER: S-EPMC1074508 | biostudies-literature | 2004
REPOSITORIES: biostudies-literature
Publications
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations.
Richieri-Costa Antonio A Guion-Almeida Maria Leine ML
International journal of medical sciences 20040310 1
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 du ...[more]
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