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A CASE OF PERSISTANT INTRACRANIAL HYPERTENSION IN A 7 YEARS OLD GIRL WITH MULTIPLE HEREDITARY EXOSTOSIS AND CRANIOSTENOSIS

Abstract

The article demonstrates a case of rare hereditary syndrome observation — with the multiple hereditary exostosis (MHE) syndrome in a 7 years old girl. The article covers hereditary and clinical features and life prognosis of the syndrome.
Key words: intracranial hypertension, multiple hereditary exostosis (MHE) syndrome, craniostenosis, children.

About the Authors

L.M. Kuzenkova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


E.M. Mazurina
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation



O.B. Kondakova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


N.V. Zhurkova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation



O.V. Chumakova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


I.M. Abdraziakova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


References

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2. Wuyts W., Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum. Mutat. 2000; 15: 220–227.

3. Francannet C., Cohen–Tanugi A., Le Merrer M. et al. Genotype phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 2001; 38: 430–434.

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6. Mc Gaughran J.M., Ward H.B., Evans D.G.R. WARG syndrome and multiple exostoses in patient with del(11)(p11.2p14.2). J. Med. Genet. 1995; 32: 823–824.

7. Potocki L., Shaffer L.G. Interstitial deletion of 11 (p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am. J. Med. Genet. 1996; 62: 319–325.

8. Bartsch O., Powell C.M., Shaffer L.G. et al. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis and mental retardation, caused by deletions on the short arm of chromosome 11. Am. J. Hum. Genet. 1996; 58: 7334–7742.


Review

For citations:


Kuzenkova L., Mazurina E., Kondakova O., Zhurkova N., Chumakova O., Abdraziakova I. A CASE OF PERSISTANT INTRACRANIAL HYPERTENSION IN A 7 YEARS OLD GIRL WITH MULTIPLE HEREDITARY EXOSTOSIS AND CRANIOSTENOSIS. Current Pediatrics. 2007;6(2):143-145.

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ISSN 1682-5527 (Print)
ISSN 1682-5535 (Online)