ACHONDROPLASIA: CASE OF LATE DIAGNOSIS
https://doi.org/10.34822/2304-9448-2021-1-92-98
Abstract
The study aims to present an analysis of the late diagnosis of achondroplasia in an 8-year-old child. Material and methods. A clinical case of achondroplasia in a girl with partial growth hormone deficiency is presented.
Anamnestic data and the results of a large block of examination, which did not lead to timely diagnosis of pathology, are analyzed. Results. In the process of dynamic observation, a rare genetic disease with characteristic typological manifestations was revealed in a child of 8 years. The isolation of individual clinical signs of growth retardation, isolated from other manifestations, led to an underestimation of the clinical situation and late diagnosis.
About the Authors
Ya. V. Girsh
Surgut State University
Russian Federation
Russian Federation
Doctor of Sciences (Medicine), Professor, Professor of the Department of Children Diseases, Medical Institute
E-mail: yanaef@yandex.ru
E. V. Sedova
Surgut State University, Surgut
Russian Federation
Russian Federation
Resident Medical Officer, Medical Institute
E-mail: katrin.94@bk.ru
A. A. Teplyakov
Surgut State University
Russian Federation
Russian Federation
andidate of Sciences (Medicine), Associate Professor Department of Children Diseases, Medical Institute
E-mail: atepliakov@yandex.ru
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Review
For citations:
Girsh Ya.V., Sedova E.V., Teplyakov A.A. ACHONDROPLASIA: CASE OF LATE DIAGNOSIS. Vestnik SurGU. Meditsina. 2021;(1 (47)):92-98. (In Russ.) https://doi.org/10.34822/2304-9448-2021-1-92-98
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