Poland–Mebius syndrome: A clinical case and review of the literature

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Abstract

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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About the authors

Alina М. 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-code: 3348-8038

MD, Research Associate

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Olga E. 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-code: 4393-3694

MD, PhD, Dr. Sci. (Med.)

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Margarita V. 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-code: 5710-4790

MD, PhD, Cand. Sci. (Med.)

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Yuriy E. 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-code: 7546-3080

MD, PhD, Dr. Sci (Med.)

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Denis Yu. 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-code: 1940-3837

MD, Research Associate

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Evgenii V. 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-code: 1552-8550

MD, PhD, Cand. Sci. (Med.)

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Bagauddin H. 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-code: 2348-4418

MD, orthopedic and trauma surgeon

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Sergey А. 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

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Elena V. 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

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

Victoria V. Morozova

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Author for correspondence.
Email: frostigersieg@gmail.com
ORCID iD: 0009-0007-5961-2641

MD, functional diagnostician, neurologist

Russian Federation, 64-68 Parkovaya str., Pushkin, Saint Petersburg, 196603

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Supplementary files

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2. Fig. 1. Chest of patient K., 17 years old

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3. Fig. 2. Right and left hands of patient K., 17 years old (see text for description)

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4. Fig. 3. Patient K., 17 years old. Limitation of outward movement of the right eyeball (a); tongue deviation to the right (b)

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5. Fig. 4. Computed tomography scan of the spine and chest of patient K., 17 years old (a–c) (see text for description)

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6. Fig. 5. Diffusion tensor magnetic resonance imaging of the cervical spinal cord with reconstruction of the tracts of the roots that form the brachial plexus and the initial sections of the trunks of the brachial plexus. Additionally, the segments of the spinal cord corresponding to the level of origin of the roots are indicated (for a description, see the text)

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7. Fig. 6. Magnetic resonance imaging of the brain of patient K., 17 years old: a — FLAIR mode, in the axial projection at the level of the facial tubercles of the rhomboid fossa of the brain stem, hypoplasia of the right facial tubercle of the rhomboid fossa is visualized (the white arrow indicates the right facial tubercle, the black arrow indicates the left); b — T1W TFE mode in coronal projection; c — T2W TSE mode in sagittal projection; The white line indicates the level of the axial section

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8. Fig. 7. Blink reflex (2.1–4.1 k.—registration on the right, 2.2–4.2 k.—registration on the left). Decrease in amplitude, increase in latency of R1 and R2 ipsi- and contralaterally upon stimulation of n. supraorbitalis on the right, R2 contralaterally when stimulating n. supraorbitalis on the left. Amplitude and latency of responses of R1 and ipsilateral R2 upon stimulation of n. supraorbitalis on the left is normal

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