Poland–Mebius syndrome: A clinical case and review of the literature
- Authors: 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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Affiliations:
- H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery
- Issue: Vol 12, No 1 (2024)
- Pages: 53-64
- Section: Clinical cases
- Submitted: 14.11.2023
- Accepted: 24.01.2024
- Published: 29.03.2024
- URL: https://journals.eco-vector.com/turner/article/view/623349
- DOI: https://doi.org/10.17816/PTORS623349
- ID: 623349
Cite item
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, 196603Olga 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, 196603Margarita 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, 196603Yuriy 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, 196603Denis 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, 196603Evgenii 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, 196603Bagauddin 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, 196603Sergey 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, 196603Elena 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, 196603Victoria 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, 196603References
- Hashim EAA, Quek BH, Chandran S. A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment. Transl Pediatr. 2021;10(4):1008–1019. doi: 10.21037/tp-20-320
- Geeroms B, Breysem L, Aertsen M. An atypical case of poland syndrome with bilateral features and dextroposition of the heart: in the work-up of poland syndrome, different imaging modalities are necessary to depict the full extent of the anomalies. J Belg Soc Radiol. 2019;103(1):45. doi: 10.5334/jbsr.1860
- Baas M, Burger EB, Sneiders D, et al. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am. 2018;43(2):186.e1–186.e16. doi: 10.1016/j.jhsa.2017.08.029
- McDowell F. On the propagation, perpetuation, and parroting of erroneous eponyms such as “Poland’s Syndrome”. Plast Reconstr Surg. 1977;59(4):561–563.
- Ram AN, Chung KC. Poland’s syndrome: current thoughts in the setting of a controversy. Plast Reconstr Surg. 2009;123(3):949–953. doi: 10.1097/PRS.0b013e318199f508
- Baldelli I, Baccarani A, Barone C, et al. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). Orphanet J Rare Dis. 2020;15(1):201. doi: 10.1186/s13023-020-01481-x
- Yiyit N, Işıtmangil T, Öksüz S. Clinical analysis of 113 patients with Poland syndrome. Ann Thorac Surg. 2015;99(3):999–1004. doi: 10.1016/j.athoracsur.2014.10.036
- Catena N, Divizia MT, Calevo MG, et al. Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. J Pediatr Orthop. 2012;32(7):727–731. doi: 10.1097/BPO.0b013e318269c898
- Database registration certificate N. 2023621666 / 05.24.2023. Khodorovskaya AM. Database of diffusion tensor magnetic resonance imaging parameters of the spinal nerve roots that form the brachial plexus in pediatric patients with consequences of unilateral birth injury of the brachial plexus. (In Russ.)
- Erton ML, İlker YN, Akdaş A. The results of the electrophysiological investigations in muscle agenesis. Marmara Med J. 1996;9(2):74–75.
- Ángel ML. Electromiography of superior members in the purpose of a case of Poland syndrome. Poland syndrome agenesia of both pectorals: with patient permission. Open Access J Surg. 2017;4(4). doi: 10.19080/OAJS.2017.04.55564
- Herrera DA, Ruge NO, Florez MM, et al. Neuroimaging findings in moebius sequence. AJNR Am J Neuroradiol. 2019;40(5):862–865. doi: 10.3174/ajnr.A6028
- Hopper KD, Haas DK, Rice MM, et al. Poland-Möbius syndrome: evaluation by computerized tomography. South Med J. 1985;78(5):523–527. doi: 10.1097/00007611-198505000-00006
- Walsh L. Congenital malformations of the human brainstem. Semin Pediatr Neurol. 2003;10(4):241–251. doi: 10.1016/s1071-9091(03)00078-0
- Munell F, Tormos MA, Roig-Quilis M. Brainstem dysgenesis: beyond Moebius syndrome. Disgenesia troncoencefalica: mas alla del sindrome de Moebius. Rev Neurol. 2018;66(7):241–250. doi: 10.33588/rn.6607.201727
- Zaidi SMH, Syed IN, Tahir U, et al. Moebius syndrome: what we know so far. Cureus. 2023;15(2). doi: 10.7759/cureus.35187
- Peleg D, Nelson GM, Williamson RA, et al. Expanded Möbius syndrome. Pediatr Neurol. 2001;24(4):306–309. doi: 10.1016/s0887-8994(01)00239-9
- Strömland K, Sjögreen L, Miller M, et al. Mobius sequence – a Swedish multidiscipline study. Eur J Paediatr Neurol. 2002;6(1):35–45. doi: 10.1053/ejpn.2001.0540
- Picciolini O, Porro M, Cattaneo E, et al. Moebius syndrome: clinical features, diagnosis, management and early intervention. Ital J Pediatr. 2016;42(1):56. doi: 10.1186/s13052-016-0256-5
- Sarnat HB. Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia. Eur J Paediatr Neurol. 2004;8(2):71–87. doi: 10.1016/j.ejpn.2003.12.005
- Leong S, Ashwell KW. Is there a zone of vascular vulnerability in the fetal brain stem? Neurotoxicol Teratol. 1997;19(4):265–275. doi: 10.1016/s0892-0362(97)00020-2
- Monawwer SA, Ali S, Naeem R, et al. Moebius syndrome: an updated review of literature. Child Neurol Open. 2023;10. doi: 10.1177/2329048X231205405
- Dooley JM, Stewart WA, Hayden JD, et al. Brainstem calcification in Möbius syndrome. Pediatr Neurol. 2004;30(1):39–41. doi: 10.1016/s0887-8994(03)00408-9
- Pedraza S, Gámez J, Rovira A, et al. MRI findings in Möbius syndrome: correlation with clinical features. Neurology. 2000;55(7):1058–1060. doi: 10.1212/wnl.55.7.1058
- Sadeghi N, Hutchinson E, Van Ryzin C, et al. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020;2(1). doi: 10.1093/braincomms/fcaa014
- Towfighi J, Marks K, Palmer E, et al. Möbius syndrome. Neuropathologic observations. Acta Neuropathol. 1979;48(1):11–17. doi: 10.1007/BF00691785
- Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet. 1986;23(4):903–918. doi: 10.1002/ajmg.1320230405
- Dufke A, Riethmüller J, Enders H. Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome. Am J Med Genet A. 2004;127A(3):291–293. doi: 10.1002/ajmg.a.20686
- Hegde HR, Shokeir MH. Posterior shoulder girdle abnormalities with absence of pectoralis major muscle. Am J Med Genet. 1982;13(3):285–293. doi: 10.1002/ajmg.1320130310
- Cingel V, Bohac M, Mestanova V, et al. Poland syndrome: from embryological basis to plastic surgery. Surg Radiol Anat. 2013;35(8):639–646. doi: 10.1007/s00276-013-1083-7
- Takakuwa T, Koike T, Muranaka T, et al. Formation of the circle of Willis during human embryonic development. Congenit Anom (Kyoto). 2016;56(5):233–236. doi: 10.1111/cga.12165
- Ahmad M, Silvera RC, Hamdan RM. Moebius-Poland syndrome: a case report. Revista Salud Uninorte. 2012;28(1):171–177. doi: 10.1186/s12887-022-03803-3
- Yadav P, Utture A, Dande V, et al. Poland-Mobius syndrome with unilateral vocal cord paralysis in a neonate. Cureus. 12(9). doi: 10.7759/cureus.10215
- Pachajoa H, Isaza C. First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol. Neurologia. 2011;26(8):502–503. doi: 10.1016/j.nrl.2011.01.019
- McClure PK, Kilinc E, Oishi S, et al. Mobius syndrome: a 35-year single institution experience. J Pediatr Orthop. 2017;37(7):e446–e449. doi: 10.1097/BPO.0000000000001009
- Ferraro GA, Perrotta A, Rossano F, et al. Poland syndrome: description of an atypical variant. Aesthetic Plast Surg. 2005;29(1):32–33. doi: 10.1007/s00266-004-0047-z
- Rosa RF, Travi GM, Valiatti F, et al. Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy. Birth Defects Res A Clin Mol Teratol. 2007;79(6):507–511. doi: 10.1002/bdra.20366
- Guedes ZC. Möbius syndrome: misoprostol use and speech and language characteristics. Int Arch Otorhinolaryngol. 2014;18(3):239–243. doi: 10.1055/s-0033-1363466.
- Glass GE, Mohammedali S, Sivakumar B, et al. Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review. BMC Pediatr. 2022;22(1):745. doi: 10.1186/s12887-022-03803-3
- Larrandaburu M, Schüler L, Ehlers JA, et al. The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic component. Clin Dysmorphol. 1999;8(2):93–99.
- Nguyen GV, Goncalves LF, Vaughn J, et al. Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging. Pediatr Radiol. 2023;53(10):2144–2148. doi: 10.1007/s00247-023-05712-8
- Flores A, Ross JR, Tullius TG Jr, et al. A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain. J Perinatol. 2013;33(7):572–573. doi: 10.1038/jp.2012.92
- Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet. 2016;17(1):89. doi: 10.1186/s12881-016-0351-x
- Donahue SP, Wenger SL, Steele MW, et al. Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation. Ophthalmic Paediatr Genet. 1993;14(1):17–21. doi: 10.3109/13816819309087618
- Rojas-Martínez A, García-Cruz D, Rodríguez García A, et al. Poland-Moebius syndrome in a boy and Poland syndrome in his mother. Clin Genet. 1991;40(3):225–228. doi: 10.1111/j.1399-0004.1991.tb03081.x
- Happle R. What is paradominant inheritance? J Med Genet. 2009;46(9):648. doi: 10.1136/jmg.2009.069336
- Wetzel-Strong SE, Galeffi F, Benavides C, et al. Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle’s paradominant inheritance hypothesis. Genetics. 2023;224(4). doi: 10.1093/genetics/iyad077
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