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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Hypertelorism

 
 
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Disease relevance of Hypertelorism

 

High impact information on Hypertelorism

  • In contrast, excess SHH leads to a mediolateral widening of the FNP and a widening between the eyes, a condition known as hypertelorism [6].
  • In the most severe forms of the disease, the association of bicoronal craniosynostosis with hypertelorism and marked bulging of the temporal fossae were common hallmarks that might be helpful for clinical diagnosis [7].
  • We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria [8].
  • Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay [9].
  • We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth [10].
 

Chemical compound and disease context of Hypertelorism

 

Biological context of Hypertelorism

  • Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high-arched palate [16].
  • Patients with 9q34.3 terminal deletion usually show a clinically recognizable phenotype characterized by specific facial features (microcephaly, flat face, arched eyebrows, hypertelorism, short nose, anteverted nostrils, carp mouth and protruding tongue) in combination with severe mental retardation, hypotonia, and other anomalies [17].
 

Anatomical context of Hypertelorism

 

Gene context of Hypertelorism

 

Analytical, diagnostic and therapeutic context of Hypertelorism

References

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  22. A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. Titomanlio, L., Baumann, C., Bonyhay, G., Huten, Y., Oury, J.F., Vuillard, E., Garel, C., Terdjman, P., Verloes, A., Delezoide, A.L. Am. J. Med. Genet. A (2005) [Pubmed]
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