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DOI 10.1186/s13023-020-01481-x

Медицинская библиотека · Orphanet journal of rare diseases · 2020

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

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

СтатьяОбзорConsensus StatementПеревод в очереди

Аннотация

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.

Для цитирования: Baldelli Ilaria, Baccarani Alessio, Barone Chiara, Bedeschi Francesca, Bianca Sebastiano, Calabrese Olga, Castori Marco, Catena Nunzio, Corain Massimo, Costanzo Sara, Barbato Giacomo De Paoli, De Stefano Santa, Divizia Maria Teresa, Feletti Francesco, Formica Matteo, Lando Mario, Lerone Margherita, Lorenzetti Fulvio, Martinoli Carlo, Mellini Lorenzo, Nava Maurizio Bruno, Porcellini Giuseppe, Puliti Aldamaria, Romanini Maria Victoria, Rondoni Franco, Santi Pierluigi, Sartini Silvana, Senes Filippo, Spada Lucia, Tarani Luigi, Valle Maura, Venturino Cristina, Zaottini Federico, Torre Michele, Crimi Marco. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).. Orphanet journal of rare diseases. 2020. DOI: 10.1186/s13023-020-01481-x.

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