Email this article MECOM-associated syndrome: a literature review and case reports
- Authors: Gurzhikhanova M.K.1, Shestopalov G.I.1, Vasilyeva M.S.1, Petrova U.N.1, Antonova K.S.1, Fedorova D.V.1, Kotskaya N.N.1, Radygina S.A.1, Lubsanova L.B.2, Donyush E.K.3, Fink O.S.3, Pristanskova E.A.3, Skorobogatova E.V.3, Pavlova A.V.1, Kurnikova M.A.1, Suntsova E.V.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Children’s Republican Clinical Hospital of Ministry of Healthcare of the Republic of Buryatia
- Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation
- Issue: Vol 21, No 3 (2022)
- Pages: 65-76
- Section: CLINICAL OBSERVATIONS
- Submitted: 15.10.2022
- Accepted: 15.10.2022
- Published: 15.10.2022
- URL: https://hemoncim.com/jour/article/view/652
- DOI: https://doi.org/10.24287/1726-1708-2022-21-3-65-76
- ID: 652
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Abstract
Mutations in the MECOM gene (MDS1 and EVI1 complex locus) may be one of the causes of a rare combination of congenital radioulnar synostosis resulting in extremely limited forearm pronation and supination, and amegakaryocytic thrombocytopenia. The clinical spectrum of the disease can range from isolated radioulnar synostosis with or without hematologic manifestations to severe bone marrow failure without skeletal abnormalities. Other phenotypic manifestations include clinodactyly, brachydactyly, cardiac and renal malformations, presenile hearing loss, and B-cell deficiency. In view of the heterogeneity of phenotypic manifestations of the disease, the term “MECOM-associated syndrome” was proposed for all patients with mutations in the MECOM gene. Here we report 3 pediatric cases of MECOM-associated syndrome with different clinical manifestations, diagnostic approaches, therapeutic options, and outcomes. The patient’s parents agreed to use the information, including the child’s photo, in scientific research and publications.
About the authors
M. Kh. Gurzhikhanova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: medina.gurzhihanova@fccho-moscow.ru
ORCID iD: 0000-0002-0411-9485
Medina Kh. Gurzhikhanova, a resident
1 Samory Mashela St., Moscow 117997, Russia
РоссияG. I. Shestopalov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-2410-2867
1 Samory Mashela St., Moscow 117997, Russia
РоссияM. S. Vasilyeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-9335-5286
1 Samory Mashela St., Moscow 117997, Russia
РоссияU. N. Petrova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-1258-8281
1 Samory Mashela St., Moscow 117997, Russia
РоссияK. S. Antonova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-6603-5749
1 Samory Mashela St., Moscow 117997, Russia
РоссияD. V. Fedorova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4567-1871
1 Samory Mashela St., Moscow 117997, Russia
РоссияN. N. Kotskaya
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-2787-6005
1 Samory Mashela St., Moscow 117997, Russia
РоссияS. A. Radygina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7696-1153
1 Samory Mashela St., Moscow 117997, Russia
РоссияL. B. Lubsanova
Children’s Republican Clinical Hospital of Ministry of Healthcare of the Republic of Buryatia
Ulan-Ude
РоссияE. K. Donyush
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-4252-8829
Moscow
РоссияO. S. Fink
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-1336-9379
Moscow
РоссияE. A. Pristanskova
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-4569-657X
Moscow
РоссияE. V. Skorobogatova
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4431-1444
Moscow
РоссияA. V. Pavlova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3974-5662
Moscow
РоссияM. A. Kurnikova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-0900-6874
Moscow
РоссияE. V. Suntsova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-8404-1800
Moscow
РоссияReferences
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