Clinical case of diagnosis of nail-patella syndrome in a child 11 years old.
https://doi.org/10.24412/2311-5068-2024-12-1-61
Abstract
TWe described а clinical case of diagnosis of nail-patella syndrome in an 11-year-old boy. In the observation, in addition to the classical signs (changes in the osteoarticular and urinary systems), the syndrome was manifested by growth retardation, moderate protein-energy deficiency and signs of connective tissue dysplasia. The diagnosis was confirmed by whole exome sequencing, which made it possible to detect a pathogenic variant in the LMX1B gene in a heterozygous state that had not previously been described in the literature.
About the Authors
K. A. Arutyunyan
Amur State Medical Academy of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
O. V. Shanova
Amur State Medical Academy of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
E. L. Chupak
Amur State Medical Academy of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Arutyunyan K.A., Shanova O.V., Chupak E.L. Clinical case of diagnosis of nail-patella syndrome in a child 11 years old. Amur Medical Journal. 2024;12(1):62-67. (In Russ.) https://doi.org/10.24412/2311-5068-2024-12-1-61
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