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

Best practice recommendations Clinical management Diagnosis Poland syndrome Rare diseases

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
05 08 2020
Historique:
received: 27 04 2020
accepted: 26 07 2020
entrez: 8 8 2020
pubmed: 8 8 2020
medline: 22 6 2021
Statut: epublish

Résumé

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

Sections du résumé

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.

Identifiants

pubmed: 32758259
doi: 10.1186/s13023-020-01481-x
pii: 10.1186/s13023-020-01481-x
pmc: PMC7405453
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

201

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Auteurs

Ilaria Baldelli (I)

Policlinico San Martino Hospital IRCCS for Oncology, Genoa, Italy.
Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.

Alessio Baccarani (A)

Department of Medical and Surgical Sciences for Children and Adults, University Hospital of Modena, Modena, Italy.

Chiara Barone (C)

Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.

Francesca Bedeschi (F)

Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Sebastiano Bianca (S)

Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.

Olga Calabrese (O)

Medical Genetic Unit, University Hospital of Modena, Modena, Italy.

Marco Castori (M)

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

Nunzio Catena (N)

Pediatric Orthopedic and Traumatology Unit Azienda Ospedalieria SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy.

Massimo Corain (M)

Hand Surgery Unit - Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

Sara Costanzo (S)

Pediatric Surgery Unit, V. Buzzi Children's Hospital, Milan, Italy.

Giacomo De Paoli Barbato (GP)

Azienda USL di Ferrara, Ospedale del Delta, Ferrara, Italy.

Santa De Stefano (S)

Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.

Maria Teresa Divizia (MT)

Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Francesco Feletti (F)

Department of Diagnostic Imaging AUSL of Romagna, U.O. of Radiology, "Santa Maria delle Croci" Civil Hospital, Ravenna, Italy.

Matteo Formica (M)

Orthopedic Clinic, Department of Surgical Sciences, University of Genova, Ospedale Policlinico San Martino, Genoa, Italy.

Mario Lando (M)

Department of Muscle-Skeletal Surgery, Hand and Microsurgery Division, Modena University Hospital, Modena, Italy.

Margherita Lerone (M)

Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Fulvio Lorenzetti (F)

Plastic and Reconstructive Surgery Unit, University of Pisa, Santa Chiara Hospital, Pisa, Italy.

Carlo Martinoli (C)

Department of Health Science, Section of Radiology, University of Genoa, Genoa, Italy.

Lorenzo 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.

Maurizio Bruno Nava (MB)

G.Re.T.A. Group for Reconstructive and Therapeutic Advancements, University of Genoa, Genoa, Italy.

Giuseppe Porcellini (G)

Department of Orthopaedics and Traumatology, Modena Policlinic, Modena, Italy.

Aldamaria Puliti (A)

Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
DiNOGMI, University of Genova, Genoa, Italy.

Maria Victoria Romanini (MV)

Plastic and Reconstructive Surgery, Pediatric Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Franco Rondoni (F)

USL Umbria 1, Ospedale Città di Castello, Perugia, Italy.

Pierluigi Santi (P)

Policlinico San Martino Hospital IRCCS for Oncology, Genoa, Italy.
Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.

Silvana Sartini (S)

Hand Rehabilitation Center, Modena University Hospital, Modena, Italy.

Filippo Senes (F)

Reconstructive Surgery and Hand Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Lucia Spada (L)

Centro di Educazione Matrimoniale e Prematrimoniale, Genoa, Italy.

Luigi Tarani (L)

Department of Pediatrics, "Sapienza", University of Rome, Rome, Italy.

Maura Valle (M)

UOC Radiologia Neuroradiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Cristina Venturino (C)

Psychiatric Service, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Federico Zaottini (F)

Department of Health Science, Section of Radiology, University of Genoa, Genoa, Italy.

Michele Torre (M)

Associazione Italiana Sindrome Poland, Via Asiago, 3r, 16137, Genoa, Italy.
Pediatric Thoracic and Airway Surgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Marco 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.

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