I.E. IVANOVA¹, L.G. NOGTEVA², V.A. RODIONOV^1,3

 ¹Institute for Advanced Medical Studies of the Ministry of Healthcare of the Chuvash Republic, 27 M. Sespel Str., Cheboksary, Russian Federation, 428000

²Presidential Prenatal Center of the Ministry of Healthcare of the Chuvash Republic, 9 Moskovskiy Pr., Cheboksary, Russian Federation 428018

^1,3 Budgetary institution “City Children’s Clinical Hospital” of the Ministry of Healthcare of the Chuvash Republic, 12 Traktorostroiteley Ave., Cheboksary, Russian Federation, 428000

 Ivanova I.E. — D. Sc. (medicine), Head of the Department of Pediatrics, tel. (8352) 56-00-10, e-mail: ivanova_57@list.ru, ORCID ID 0000-0003-0759-3753

Rodionov V.A. — D. Sc. (medicine), Professor, Deputy Chief Doctor, tel. (8352) 21-96-10, e-mail: vladimirodionov@yandex.ru, ORCID ID 0000-0001-6812-2504

Nogteva L.G. — Deputy Chief Doctor, tel. (8352) 58-61-62, e-mail: nogteva_l@mail.ru, ORCID ID 0000-0003-3256-5180

Objective: to provide a brief literature review and the clinical case of diagnosis of imperfect osteogenesis in a child in the first months of life.

Materials and methods: literary sources and medical documentation of a patient with imperfect osteogenesis (medical records, protocol for pathological-anatomical research, conclusion of genetic research) were studied.

Results: a brief review of the medical literature on imperfect osteogenesis is presented, the clinical characteristics of the course of the disease in a patient are given, the data of his instrumental and genetic research are presented.

Conclusion: despite the rare occurrence of this pathology, its timely diagnosis is possible due to the specific clinical picture and the availability of methods of genetic analysis.

Key words: imperfect osteogenesis, children, prevalence, clinic, diagnosis, genetic analysis.

(For citation: Ivanova I.E., Rodionov V.A., Nogteva L.G. Imperfect osteogenesis of the 2^nd type in an infant. Medical case. Practical Medicine. 2018)

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