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

Autor: Baldelli I; Policlinico San Martino Hospital IRCCS for Oncology, Genoa, Italy.; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy., Baccarani A; Department of Medical and Surgical Sciences for Children and Adults, University Hospital of Modena, Modena, Italy., Barone C; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy., Bedeschi F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Bianca S; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy., Calabrese O; Medical Genetic Unit, University Hospital of Modena, Modena, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Catena N; Pediatric Orthopedic and Traumatology Unit Azienda Ospedalieria SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy., Corain M; Hand Surgery Unit - Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Costanzo S; Pediatric Surgery Unit, V. Buzzi Children's Hospital, Milan, Italy., Barbato GP; Azienda USL di Ferrara, Ospedale del Delta, Ferrara, Italy., De Stefano S; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy., Divizia MT; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Feletti F; Department of Diagnostic Imaging AUSL of Romagna, U.O. of Radiology, 'Santa Maria delle Croci' Civil Hospital, Ravenna, Italy., Formica M; Orthopedic Clinic, Department of Surgical Sciences, University of Genova, Ospedale Policlinico San Martino, Genoa, Italy., Lando M; Department of Muscle-Skeletal Surgery, Hand and Microsurgery Division, Modena University Hospital, Modena, Italy., Lerone M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Lorenzetti F; Plastic and Reconstructive Surgery Unit, University of Pisa, Santa Chiara Hospital, Pisa, Italy., Martinoli C; Department of Health Science, Section of Radiology, University of Genoa, Genoa, Italy., Mellini L; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.; Department of Morphology Surgery and Experimental Medicine, Section of Radiology, University of Ferrara, Ferrara, Italy., Nava MB; G.Re.T.A. Group for Reconstructive and Therapeutic Advancements, University of Genoa, Genoa, Italy., Porcellini G; Department of Orthopaedics and Traumatology, Modena Policlinic, Modena, Italy., Puliti A; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; DiNOGMI, University of Genova, Genoa, Italy., Romanini MV; Plastic and Reconstructive Surgery, Pediatric Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Rondoni F; USL Umbria 1, Ospedale Città di Castello, Perugia, Italy., Santi P; Policlinico San Martino Hospital IRCCS for Oncology, Genoa, Italy.; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy., Sartini S; Hand Rehabilitation Center, Modena University Hospital, Modena, Italy., Senes F; Reconstructive Surgery and Hand Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Spada L; Centro di Educazione Matrimoniale e Prematrimoniale, Genoa, Italy., Tarani L; Department of Pediatrics, 'Sapienza', University of Rome, Rome, Italy., Valle M; UOC Radiologia Neuroradiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Venturino C; Psychiatric Service, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zaottini F; Department of Health Science, Section of Radiology, University of Genoa, Genoa, Italy., Torre M; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.; Pediatric Thoracic and Airway Surgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Crimi M; Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy. mcrimi@kaleidos.care.; Kaleidos SCS-Onlus, Scientific Office, Bergamo, Italy. mcrimi@kaleidos.care.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 05; Vol. 15 (1), pp. 201. Date of Electronic Publication: 2020 Aug 05.
DOI: 10.1186/s13023-020-01481-x
Abstrakt: 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.
Databáze: MEDLINE
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