N.M. MARYCHEVA¹, N.A. ZHUCHENKO¹, M.M. KOSTIK², A.A. BEME¹, Yu.Yu. KOTALEVSKAYA³, N.V. ZHURKOVA⁴, A.Yu. ASANOV¹

 ¹ First Moscow State Medical University named after I.M. Sechenov, 8/2 Trubetskaya Str., Moscow, Russian Federation, 119048

² Saint-Petersburg State Pediatric Medical University, 2 Litovskaya Str., Saint-Petersburg, Russian Federation, 194100

³ Moscow Scientific-Research Clinical Institute named after M.F. Vladimirskiy, 61/2 Shchepkin Str., Moscow, Russian Federation, 129110

⁴ Scientific Centre of Children Health, 2/1 Lomonosovsky prospekt, Moscow, Russian Federation, 119991

Marycheva N.M. — postgraduate student of the Medical Genetics Department, e-mail:[email protected]

Zhuchenko N.A. — Ph. D. (medicine), Associate Professor of the Medical Genetics Department, e-mail: [email protected]

Kostik M.M. — Ph. D. (medicine), Associate Professor of the Hospital Pediatrics Department, e-mail: [email protected]

Beme A.A. — postgraduate student of the Medical Genetics Department, e-mail: [email protected]

Kotalevskaya Yu.Yu. — Ph. D. (medicine), clinical geneticist of the Medical Genetics Laboratory, e-mail: [email protected]

Zhurkova N.V. — Ph. D. (medicine), Senior Researcher, tel. +7 (499) 134-14-45, e-mail: [email protected]

Asanov A.Yu. — D. Sc. (medicine), Professor, Head of the Medical Genetics Department, e-mail: [email protected]

The article presents a comparative analysis of familial and sporadic cases of osteogenesis imperfecta type I in a sample of 35 patients. A comparative analysis of the clinical signs and symptoms, as well as some medical tests results, showed no significant differences between familial and sporadic cases of osteogenesis imperfecta, neither in general clinical presentation nor in the symptoms variety. At the same time, the differences in the frequency characteristics of some clinically significant symptoms (time of onset, frequency of deformities of the lower extremities and height change) may be considered as one of the possible factors of assessing the severity of osteogenesis imperfecta.

Key words: osteogenesis imperfecta, familial cases, sporadic cases, clinical polymorphism.

(For citation: Marycheva N.M., Zhuchenko N.A., Kostik M.M., Beme A.A., Kotalevskaya Yu.Yu., Zhurkova N.V., Asanov A.Yu. Comparative analysis of clinical manifestation of familial and sporadic cases in osteogenesis imperfecta type I. Practical Medicine. 2018)

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