Roberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, Chiara Leoni, Valentina Giorgio, Donato Rigante, Cristina De Rose, Eliza Maria Kuczynska, Domenico Marco Romeo, Osvaldo Palmacci, Luca Massimi, Matteo Porro, Michaela Veronika Gonfiantini, Angelo Selicorni, Anna Allegri, Mohamad Maghnie, Giuseppe Zampino
The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age...
September 25, 2023: European Journal of Medical Genetics