Orphanet Journal of Rare Diseases (Aug 2020)
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
- 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
Affiliations
- Ilaria Baldelli
- Policlinico San Martino Hospital IRCCS for Oncology
- Alessio Baccarani
- Department of Medical and Surgical Sciences for Children and Adults, University Hospital of Modena
- Chiara Barone
- Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi
- Francesca Bedeschi
- Clinical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Sebastiano Bianca
- Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi
- Olga Calabrese
- Medical Genetic Unit, University Hospital of Modena
- Marco Castori
- Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza
- Nunzio Catena
- Pediatric Orthopedic and Traumatology Unit Azienda Ospedalieria SS Antonio e Biagio e Cesare Arrigo
- Massimo Corain
- Hand Surgery Unit – Azienda Ospedaliera Universitaria Integrata
- Sara Costanzo
- Pediatric Surgery Unit, V. Buzzi Children’s Hospital
- Giacomo De Paoli Barbato
- Azienda USL di Ferrara, Ospedale del Delta
- Santa De Stefano
- Associazione Italiana Sindrome Poland
- Maria Teresa Divizia
- Medical Genetics Unit, IRCCS Istituto Giannina Gaslini
- Francesco Feletti
- Department of Diagnostic Imaging AUSL of Romagna, U.O. of Radiology, “Santa Maria delle Croci” Civil Hospital
- Matteo Formica
- Orthopedic Clinic, Department of Surgical Sciences, University of Genova, Ospedale Policlinico San Martino
- Mario Lando
- Department of Muscle-Skeletal Surgery, Hand and Microsurgery Division, Modena University Hospital
- Margherita Lerone
- Medical Genetics Unit, IRCCS Istituto Giannina Gaslini
- Fulvio Lorenzetti
- Plastic and Reconstructive Surgery Unit, University of Pisa, Santa Chiara Hospital
- Carlo Martinoli
- Department of Health Science, Section of Radiology, University of Genoa
- Lorenzo Mellini
- Associazione Italiana Sindrome Poland
- Maurizio Bruno Nava
- G.Re.T.A. Group for Reconstructive and Therapeutic Advancements, University of Genoa
- Giuseppe Porcellini
- Department of Orthopaedics and Traumatology, Modena Policlinic
- Aldamaria Puliti
- Medical Genetics Unit, IRCCS Istituto Giannina Gaslini
- Maria Victoria Romanini
- Plastic and Reconstructive Surgery, Pediatric Surgery Unit, IRCCS Istituto Giannina Gaslini
- Franco Rondoni
- USL Umbria 1, Ospedale Città di Castello
- Pierluigi Santi
- Policlinico San Martino Hospital IRCCS for Oncology
- Silvana Sartini
- Hand Rehabilitation Center, Modena University Hospital
- Filippo Senes
- Reconstructive Surgery and Hand Surgery Unit, IRCCS Istituto Giannina Gaslini
- Lucia Spada
- Centro di Educazione Matrimoniale e Prematrimoniale
- Luigi Tarani
- Department of Pediatrics, “Sapienza”, University of Rome
- Maura Valle
- UOC Radiologia Neuroradiologia, IRCCS Istituto Giannina Gaslini
- Cristina Venturino
- Psychiatric Service, IRCCS Istituto Giannina Gaslini
- Federico Zaottini
- Department of Health Science, Section of Radiology, University of Genoa
- Michele Torre
- Associazione Italiana Sindrome Poland
- Marco Crimi
- Associazione Italiana Sindrome Poland
- DOI
- https://doi.org/10.1186/s13023-020-01481-x
- Journal volume & issue
-
Vol. 15,
no. 1
pp. 1 – 17
Abstract
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.
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