Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2004;1(1):34-42.
doi: 10.7150/ijms.1.34. Epub 2004 Mar 10.

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

Antonio Richieri-Costa  1 , Maria Leine Guion-Almeida
Affiliations

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

Antonio Richieri-Costa et al. Int J Med Sci. 2004.

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.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: The authors have declared that no conflict of interest exists.

Figures

Figure 1
Figure 1
Clinical and image aspects of patient 1
Figure 2
Figure 2
Clinical and image aspects of patient 2
Figure 3
Figure 3
Clinical and image aspects of patient 3
Figure 4
Figure 4
Clinical and image aspects of patient 4
Figure 5
Figure 5
Clinical and image aspects of patient 5
Figure 6
Figure 6
Clinical and image aspects of patient 6
Figure 7
Figure 7
Clinical and image aspects of patient 7
Figure 8
Figure 8
Clinical and image aspects of patient 8
Figure 9
Figure 9
Clinical and image aspects of patient 9
Figure 10
Figure 10
Clinical and image aspects of patient 10
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol. 1999;8:1–4. - PubMed
    1. Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet. 2001;2:458–68. - PubMed
    1. Gripp KW. et al. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nature Genetics. 2000;25:205–8. - PubMed
    1. Cohen MM Jr. et al. Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg. 1995;24:387–95. - PubMed
    1. Guion-Almeida ML, Richieri-Costa A. Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition. Clin Dysmorphol. 1999;2(3):19–22.