Top

Published in:

Open Access 01-12-2020 | Review

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Authors: Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando, Margherita Lerone, Fulvio Lorenzetti, Carlo Martinoli, Lorenzo Mellini, Maurizio Bruno Nava, Giuseppe Porcellini, Aldamaria Puliti, Maria Victoria Romanini, Franco Rondoni, Pierluigi Santi, Silvana Sartini, Filippo Senes, Lucia Spada, Luigi Tarani, Maura Valle, Cristina Venturino, Federico Zaottini, Michele Torre, Marco Crimi

Published in: Orphanet Journal of Rare Diseases | Issue 1/2020

Abstract

Background

Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

Main body

The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.

Conclusion

Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nurs. 2000;32:1008–15.PubMed

Poland A. Deficiency of the pectoral muscles. Guy’s Hosp Rep. 1841;6:191.

Gocmen H, Akkas Y, Doganay S. Poland syndrome: rare presentation in two cases. N Z Med J. 2010;123(1321):71–7.PubMed

Al–Qattan MM. Classification of hand anomalies in Poland’s syndrome. Br J Plast Surg. 2001;54:132–6.PubMed

Catena N, Divizia MT, Calevo MG, Baban A, Torre M, Ravazzolo R, et al. Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. J Pediatr Orthop. 2012;32(7):727–31.PubMed

Kim YH, Kwon WJ, Park SI. Anesthetic experience during reconstruction surgery of a chest wall defect in a patient with Poland syndrome: a case report. Korean J Anesthesiol. 2009;57(5):652–5.PubMed

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.PubMedPubMedCentral

Baban A, Torre M, Bianca S, Buluggiu A, Rossello MI, Calevo MG, et al. Poland syndrome with bilateral features: case description with review of the literature. Am J Med Genet A. 2009;149A(7):1597–602.PubMed

Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, et al. Familial Poland anomaly revisited. Am J Med Genet A. 2012;158A(1):140–9.PubMed

10.

Van Steensel MA. Poland anomaly: not unilateral or bilateral but mosaic. Am J Med Genet A. 2004;125A(2):211–2.PubMed

11.

Martínez-Frías ML, Czeizel AE, Rodríguez-Pinilla E, Bermejo E. Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry. Teratology. 1999;59:35–8.PubMed

12.

Senrui H, Egawa T, Horiki A. Anatomical findings in the hands of patients with Poland’s syndrome. J Bone Joint Surg Am. 1982;64:1079–82.PubMed

13.

Ribeiro RC, Saltz R, Mangles MG, Koch H. Clinical and radiographic Poland syndrome classification: a proposal. Aesthet Surg J. 2009;29(6):494–504.PubMed

14.

Mazzola MA, Boccalini S, Fisci E, Rolla Bigliani C, Tagliafico A, Martinoli C. US evaluation of Poland syndrome. European Society of Musculoskeletal Radiology conference. 2012;Poster No.:P-007.

15.

Paladini D, D'Armiento MR, Martinelli P. Prenatal ultrasound diagnosis of Poland syndrome. Obstet Gynecol. 2004;104(5 Pt 2):1156–9.1123.PubMed

16.

Jeung MY, Gangi A, Gasser B, Vasilescu C, Massard G, Wihlm JM, Roy C. Imaging of chest wall disorders. Radiographics. 1999;19(3):617–37.PubMed

17.

Wright AR, Milner RH, Bainbridge LC, Wilsdon JB. MR and CT in the assessment of Poland syndrome. J Comput Assist Tomogr. 1992;16(3):442–7.PubMed

18.

Bainbridge LC, Wright AR, Kanthan R. Computed tomography in the preoperative assessment of Poland's syndrome. Br J Plast Surg. 1991;44(8):604–7.PubMed

19.

Inaloz HS, Gursoy S, Madenci E, Kirtak N. Minor Poland’s syndrome mimicking localized lipoatrophy. J Dermatol. 2002;29(12):815–7.PubMed

20.

Dillman JR, Sanchez R, Ladino-Torres MF, Yarram SG, Strouse PJ, Lucaya J. Expanding upon the unilateral hyperlucent hemithorax in children. Radiographics. 2011;31(3):723–41.PubMed

21.

Wasilewska E, Lee EY, Eisenberg RL. Unilateral hyperlucent lung in children. AJR Am J Roentgenol. 2012;198(5):W400–14.PubMed

22.

Baas M, Burger EB, Sneiders D, Galjaard RH, Hovius SER, van Nieuwenhoven CA. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am. 2018;43(2):186.e1–186.e16.

23.

Karnak I, Tanyel FC, Tunçbilek E, Unsal M, Büyükpamukçu N. Bilateral Poland anomaly. Am J Med Genet. 1998;75(5):505–7.PubMed

24.

Maroteaux P, Le Merrer M. Bilateral Poland anomaly versus thoracic dysplasia. Am J Med Genet. 1998;80(5):538–9.PubMed

25.

Yiyit N, Işıtmangil T, Öksüz S. Clinical analysis of 113 patients with Poland syndrome. Ann Thorac Surg. 2015;99(3):999–1004.PubMed

26.

Cetin II, Aktaş D, Tunçbilek E. Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome. Eur J Med Genet. 2005;48(2):183–7.PubMed

27.

Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet. 1991;38(1):69–73.

28.

Erol M, Caksen H, Tan O, Atik B, Unal O, Odabaş D. Report of a girl with Klippel-feil syndrome and Poland anomaly. Genet Couns. 2004;15(4):469–72.3.PubMed

29.

Cobben JM, van Essen AJ, McParland PC, Polman HA, ten Kate LP. A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. Clin Genet. 1992;41(2):105–7.PubMed

30.

Guion-Almeida ML, da Silva Lopes VL. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. Clin Dysmorphol. 2003;12(4):233–6.PubMed

31.

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):29–3.

32.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017;8:16077.PubMedPubMedCentral

33.

Baldelli I, Gallo F, Crimi M, Fregatti P, Mellini L, Santi P, et al. Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey. Orphanet J Rare Dis. 2019;14(1):269.PubMedPubMedCentral

34.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract. 2016;17(1):88.PubMedPubMedCentral

35.

Baumbusch J, Mayer S, Sloan-Yip I. Alone in a crowd? Parents of children with rare diseases’ experiences of navigating the healthcare system. J Genet Couns. 2019;28(1):80–90.

36.

Black AP, Baker M. The impact of parent advocacy groups, the internet, and social networking on rare diseases: the IDEA league and IDEA league United Kingdom example: the impact of parent advocacy groups. Epilepsia. 2011;52:102–4.PubMed

37.

Baldelli I, Santi P, Dova L, Cardoni G, Ciliberti R, Franchelli S, et al. Body image disorders and surgical timing in patients affected by Poland syndrome: data analysis of 58 case studies. Plast Reconstr Surgy. 2016;137(4):1273–82.

38.

Vaccari CM, Romanini MV, Musante I, Tassano E, Gimelli S, Divizia MT, et al. De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland syndrome. BMC Med Genet. 2014;30:15–63.

39.

Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet. 2016;17(1):89.PubMedPubMedCentral

40.

Romanini MV, Calevo MG, Puliti A, Vaccari C, Valle M, Senes F, et al. Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg. 2018;27(3):189–1999.

41.

Waters PM, Bae DS. Pediatric hand and upper limb surgery: a practical guide. Lippincott Williams & Wilkins (LWW); 2012. p. 12–25.

42.

Landi A, Garagnani L, Leti Acciaro A, Lando M, Ozben H, Gagliano MC. Hyaluronic acid scaffold for skin defects in congenital syndactyly release surgery: a novel technique based on the regenerative model. J Hand Surg Eur. 2014;39(9):994–1000.

43.

Baldelli I, Vappiani M, Santori G, Ciliberti R, Santi P. Letter to the editor: response to Manzano Surroca et al. “Poland sequence: retrospective analysis of 66 cases”. Ann Plast Surg. 2020;84(3):341–2.PubMed

44.

Romanini MV, Torre M, Santi P, Dova L, Valle M, Martinoli C, Baldelli I. Proposal of the TBN classification of thoracic anomalies and treatment algorithm for Poland syndrome. Plast Reconstr Surg. 2016;138(1):50–8.PubMed

45.

Wood L, Williams C, Billings J, Johnson S. The role of psychology in a multidisciplinary psychiatric inpatient setting: perspective from the multidisciplinary team. Psychol Psychother. 2019;92(4):554–64.

46.

Epstein NE. Multidisciplinary in-hospital teams improve patient outcomes: a review. Surg Neurol Int. 2014;5(Suppl 7):S295–S303.3.PubMedPubMedCentral

47.

Block A, Sarwer DB. Presurgical psychological screening: understanding patients, improving outcomes: American Psychological Association (APA); 2013.

48.

Uhlenbusch N, Löwe B, Härter M, Schramm C, Weiler-Normann C, Depping MK. Depression and anxiety in patients with different rare chronic diseases: a cross-sectional study. PLoS One. 2019;14(2):e0211343.PubMedPubMedCentral

49.

Honigman RJ, Phillips KA, Castle DJ. A review of psychosocial outcomes for patients seeking cosmetic surgery. Plast Reconstr Surg. 2004;113(4):1229–37.PubMedPubMedCentral

50.

Nuzzi LC, Cerrato FE, Webb ML, Faulkner HR, Walsh EM, DiVasta AD, et al. Psychological impact of breast asymmetry on adolescents: a prospective cohort study. Plast Reconstr Surg. 2014;134(6):1116–23.PubMed

Title: Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Authors: Ilaria Baldelli
Alessio Baccarani
Chiara Barone
Francesca Bedeschi
Sebastiano Bianca
Olga Calabrese
Marco Castori
Nunzio Catena
Massimo Corain
Sara Costanzo
Giacomo De Paoli Barbato
Santa De Stefano
Maria Teresa Divizia
Francesco Feletti
Matteo Formica
Mario Lando
Margherita Lerone
Fulvio Lorenzetti
Carlo Martinoli
Lorenzo Mellini
Maurizio Bruno Nava
Giuseppe Porcellini
Aldamaria Puliti
Maria Victoria Romanini
Franco Rondoni
Pierluigi Santi
Silvana Sartini
Filippo Senes
Lucia Spada
Luigi Tarani
Maura Valle
Cristina Venturino
Federico Zaottini
Michele Torre
Marco Crimi
Publication date: 01-12-2020
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2020
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-020-01481-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Abstract

Background

Main body

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Main body

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2020

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Saccadic reaction time and ocular findings in phenylketonuria

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)