Poland–Mebius syndrome: A clinical case and review of the literature
- 作者: Khodorovskaya A.М.1, Agranovich O.E.1, Savina M.V.1, Garkavenko Y.E.1, Grankin D.Y.1, Melchenko E.V.1, Dolgiev B.H.1, Braylov S.А.1, Kanorskaya E.V.1, Morozova V.V.1
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隶属关系:
- H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
- 期: 卷 12, 编号 1 (2024)
- 页面: 53-64
- 栏目: Clinical cases
- ##submission.dateSubmitted##: 14.11.2023
- ##submission.dateAccepted##: 24.01.2024
- ##submission.datePublished##: 29.03.2024
- URL: https://journals.eco-vector.com/turner/article/view/623349
- DOI: https://doi.org/10.17816/PTORS623349
- ID: 623349
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BACKGROUND: Currently, the eponym “Poland syndrome” has become a universal term for clinicians for all pectoral muscle developmental disorders with symbrachydactyly and without. Misinterpretation of the diagnosis in patients with pectoral muscle underdevelopment can narrow the diagnostic search, making it difficult to genetically verify the diagnosis. Thus, this study was conducted.
CLINICAL CASE: We present the results of our clinical observation of a 17-year-old adolescent with complaints of restricted movement in the joints of the right hand, right shoulder joint, shortening of the right upper extremity, and chest wall deformity. Orthopedic examination and computed tomography indicated the presence of Poland syndrome, severe Sprengel’s deformity (soft tissue form), severe left-sided keel chest deformity, kyphoscoliosis of the thoracic spine, and Scheiermann–Mau disease. The focal neurological symptoms and associated structural and functional changes in the medulla oblongata were characteristic of the extended Mebius syndrome.
DISCUSSION: Modern hypotheses of pathogenesis, clinical features, and possibilities of diagnostics of this syndrome are considered.
CONCLUSIONS: The variety of clinical manifestations of the Poland–Mebius syndrome and the current lack of clear genetic markers for both the Mebius syndrome and Poland syndrome hindered the establishment of a consensus among researchers, that is, whether the Poland–Mebius syndrome is an independent disease or a group of individual phenotypic features that are components of previously known syndromes. Further molecular genetic studies may provide a basis for the designation of Poland–Mebius syndrome as a separate entity.
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作者简介
Alina Khodorovskaya
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: alinamyh@gmail.com
ORCID iD: 0000-0002-2772-6747
SPIN 代码: 3348-8038
MD, Research Associate
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Olga Agranovich
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: olga_agranovich@yahoo.com
ORCID iD: 0000-0002-6655-4108
SPIN 代码: 4393-3694
MD, PhD, Dr. Sci. (Med.)
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Margarita Savina
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: drevma@yandex.ru
ORCID iD: 0000-0001-8225-3885
SPIN 代码: 5710-4790
MD, PhD, Cand. Sci. (Med.)
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Yuriy Garkavenko
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: yurigarkavenko@mail.ru
ORCID iD: 0000-0001-9661-8718
SPIN 代码: 7546-3080
MD, PhD, Dr. Sci (Med.)
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Denis Grankin
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: grankin.md@gmail.com
ORCID iD: 0000-0001-8948-9225
SPIN 代码: 1940-3837
MD, Research Associate
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Evgenii Melchenko
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: emelchenko@gmail.com
ORCID iD: 0000-0003-1139-5573
SPIN 代码: 1552-8550
MD, PhD, Cand. Sci. (Med.)
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Bagauddin Dolgiev
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: dr-b@bk.ru
ORCID iD: 0000-0003-2184-5304
SPIN 代码: 2348-4418
MD, orthopedic and trauma surgeon
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Sergey Braylov
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: sergeybraylov@mail.ru
ORCID iD: 0000-0003-2372-9817
MD, radiologist
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Elena Kanorskaya
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
Email: lena.kanorskaya@mail.ru
ORCID iD: 0009-0007-8644-3644
MD, radiologist
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603Victoria Morozova
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
编辑信件的主要联系方式.
Email: frostigersieg@gmail.com
ORCID iD: 0009-0007-5961-2641
MD, functional diagnostician, neurologist
俄罗斯联邦, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603参考
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