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 MelliniMaurizio 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

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Article number201
JournalOrphanet Journal of Rare Diseases
Volume15
Issue number1
DOIs
Publication statusPublished - Aug 5 2020

Keywords

  • Best practice recommendations
  • Clinical management
  • Diagnosis
  • Poland syndrome
  • Rare diseases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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