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RARE PATHOLOGY OF CHILDHOOD: TAR SYNDROME. A CASE REPORT

https://doi.org/10.52485/19986173_2024_3_131

Abstract

The article provides a contemporary literature review on the causes, clinical features, laboratory criteria, and management strategies for children with a rare condition – TAR-syndrome. The review is supported by a clinical case of a disease in an infant girl born with thrombocytopenia and a bilateral absence of the radial bones. The diagnosis was confirmed by a specific cytogenetic and molecular study.

About the Authors

O. G. Maximova
Chita State Medical Academy

Candidate of Medical Sciences, Assistant of the Department of Propedeutics of Pediatric Diseases

AuthorID: 769507

672000, Chita, Gorky str., 39 a



N. V. Levchenko
Chita State Medical Academy
Russian Federation

Candidate of Medical Sciences, Head of the Department of Propaedeutics of Childhood Disease

AuthorID: 636104

672000, Chita, Gorky str., 39 a



I. I. Petrukhina
Chita State Medical Academy

Candidate of Medical Sciences, Associate professor of the Department of Propedeutics of Pediatric Diseases

AuthorID: 585746

672000, Chita, Gorky str., 39 a



E. P. Bataeva
Chita State Medical Academy

Candidate of Medical Sciences, Associate professor of the Department of Propedeutics of Pediatric Diseases

AuthorID: 535046

672000, Chita, Gorky str., 39 a



A. N. Kazantseva
State Healthcare Institution "Regional Children's Clinical Hospital"

The head of Boxing Department № 1 for young children

672027, Chita, Novobulvarnaya Street, 20



T. S. Molchanova
State Healthcare Institution "Regional Children's Clinical Hospital"

Pediatrician of Boxing Department № 1 for young children

672027, Chita, Novobulvarnaya Street, 20



References

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2. Kuznik B.I., Sturov V.G., Levshin N.Yu, Maksimova O.G., Kudlay D.A. Hemorrhagic and thrombotic diseases and syndromes in children and adolescents. Novosibirsk. Nauka. 2018. in Russian

3. Greenhalgh K.L., Howell R.T., Bottani A. et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. R A J Med Genet. 2002. 1. 876-881. DOI: 10.1136/jmg.39.12.876

4. Gamisoniya A.M. TAR-syndrome // GENOCARTA : a genetic encyclopedia. 2019. URL: https://www.genokarta.ru/disease/TAR_sindrom (data obrashcheniya: 11.04.2024.). in Russian

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Review

For citations:


Maximova O.G., Levchenko N.V., Petrukhina I.I., Bataeva E.P., Kazantseva A.N., Molchanova T.S. RARE PATHOLOGY OF CHILDHOOD: TAR SYNDROME. A CASE REPORT. Transbaikalian Medical Bulletin. 2024;(3):131-137. (In Russ.) https://doi.org/10.52485/19986173_2024_3_131

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