Domenico Marco Romeo, Virginia Pironi, Chiara Velli, Elisabetta Sforza, Donato Rigante, Valentina Giorgio, Chiara Leoni, Cristina De Rose, Eliza Maria Kuczynska, Domenico Limongelli, Roberta Ruiz, Cristiana Agazzi, Eugenio Mercuri, Giuseppe Zampino, Roberta Onesimo
Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories...
April 2024: European Journal of Medical Genetics