vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»vsp-1068Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSСИНДРОМ СТОЙКОЙ ВНУТРИЧЕРЕПНОЙ ГИПЕРТЕНЗИИ У 7-ЛЕТНЕЙ ДЕВОЧКИ ПРИ СОЧЕТАНИИ ЭКЗОСТОЗНОЙ БОЛЕЗНИ С КРАНИОСТЕНОЗОМA CASE OF PERSISTANT INTRACRANIAL HYPERTENSION IN A 7 YEARS OLD GIRL WITH MULTIPLE HEREDITARY EXOSTOSIS AND CRANIOSTENOSISКузенковаЛ.М.KuzenkovaL.M.МазуринаЕ.М.MazurinaE.M.КондаковаО.Б.KondakovaO.B.ЖурковаН.В.ZhurkovaN.V.ЧумаковаО.В.ChumakovaO.V.АбдразяковаИ.М.AbdraziakovaI.M.Научный центр здоровья детей РАМН, МоскваРоссияScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowRussian Federation20072209201562Вопросы современной педиатрии143145Copyright © Кузенкова Л., Мазурина Е., Кондакова О., Журкова Н., Чумакова О., Абдразякова И., 20072007Кузенкова Л., Мазурина Е., Кондакова О., Журкова Н., Чумакова О., Абдразякова И.Kuzenkova L., Mazurina E., Kondakova O., Zhurkova N., Chumakova O., Abdraziakova I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/1068ReferencesКозлова С.И., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование. М.: Практика. 1996. 322 с.Козлова С.И., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование. М.: Практика. 1996. 322 с.Wuyts W., Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum. Mutat. 2000; 15: 220–227.Wuyts W., Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum. Mutat. 2000; 15: 220–227.Francannet C., Cohen–Tanugi A., Le Merrer M. et al. Genotype phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 2001; 38: 430–434.Francannet C., Cohen–Tanugi A., Le Merrer M. et al. Genotype phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 2001; 38: 430–434.Wicklund C.L., Pauli R.M., Johnston D., Hecht J.T. Natural history study of hereditary multiple exostoses. Am. J. Med. Genet. 1995; 55: 43–46.Wicklund C.L., Pauli R.M., Johnston D., Hecht J.T. Natural history study of hereditary multiple exostoses. Am. J. Med. Genet. 1995; 55: 43–46.LegeaiCMallet L., Munnich A., Maroteaux P., Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin. Genet. 1997; 52: 12–16.LegeaiCMallet L., Munnich A., Maroteaux P., Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin. Genet. 1997; 52: 12–16.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.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.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.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.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.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.
The authors declare that there are no conflicts of interest present.