EHLERS-DANLOS SYNDROME IN A CHILD OF 6 YEARS
Abstract
The paper provides clinical description of Ehlers-Danlos syndrome in a boy of 6 years. Based on the clinical and laboratory characteristics, a classic type of the disease with autosomal dominant inheritance has been diagnosed. This case represents a severe manifestation of connective tissue dysplasia, which requires a symptomatic treatment, including hemostatic therapy.
About the Authors
E. F. Argunova
Medical Institute of North-Eastern Federal University named after M.K, Ammosov
Russian Federation
Russian Federation
O. N. Ivanova
Medical Institute of North-Eastern Federal University named after M.K, Ammosov
Russian Federation
Russian Federation
E. E. Gurinova
The National Hospital No.1 - National Medical Center
Russian Federation
Russian Federation
S. N. Alekseeva
Medical Institute of North-Eastern Federal University named after M.K, Ammosov
Russian Federation
Russian Federation
References
1. Блинникова О.Е., Козлова С.И., Прытков А.Н. [и др.] Клинико-генетическая характеристика синдрома Элерса-Данлоса // Вестник дерматологии и венерологии. 2005. № 2. С. 45-48
2. Козлова С.И., Демикова Н.С. Наследственные синдромы и медико-генетическое консультирование: атлас-справочник; 3-е изд., перераб. и дополн. М.: Т-во научных изданий КМК; Авторская академия, 2007. 448 с.
3. Кузьмина Л.А. Гематология детского возраста М.: МЕДпресс информ, 2001. 400 с.
4. Beighton P., De Paepe A., Steinmann B. [et al.] Ehlers-Danlos syndromes: revised nosology // American Journal of Medical Genetika. 1997. Vol. 77, No. 1. P. 31-37.
5. Beighton P. Ehlers-Danlos syndrome // Annual Rheumotologic Diseases. 2000. Vol. 29, No. 3. P. 332-333.
6. Birk D.E., Fitch J.M., Babiars J.P. [et al.] Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter // Journal of Cell Science. 2000. No. 95. P. 649-657.
7. Burch G.H., Gong Y., Liu W., Dettman R.W. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome // Nature Genetics 1997. Vol. 17. P. 104-108.
8. Burrows N.P. The molecular genetics of the Ehlers-Danlos syndrome // Clinical and Experimental Dermatology. 1999. No. 24. P. 99-106.
9. Nuyting L., Freund M., Lagae L. [et al.] Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen // American Journal Human Genetika. 2000. No. 66. P. 1398-1402.
10. Schalkwijk J.A., Zweers M., Steijlen P. [et al.] Recessive form of Ehlers-Danlos syndrome caused by Tenascin-X deficiency // England Journal of Medicin. 2001. Vol. 345, No. 16. P. 1167-1175.
11. Schwarze U., Atkinson M., Hoffman G.G. [et al.] Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos Syndrome (types I and II) // American Journal Human Genetika // 2000. No. 66. P. 1757-1765.
Review
For citations:
Argunova E.F., Ivanova O.N., Gurinova E.E., Alekseeva S.N. EHLERS-DANLOS SYNDROME IN A CHILD OF 6 YEARS. Pacific Medical Journal. 2014;(2):105-106. (In Russ.)
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