ESPE Abstracts

Recent studies demonstrate the pivotal roles that bone-making somatic stem cells – skeletal stem cells – play in skeletal development and growth. Subtle alterations in the skeletal stem cell compartment introduced genetically or epigenetically could amplify within their derivatives, resulting in aberrations of skeletal structures and functions. The emerging concept is that skeletal stem cells are not a monolithic group of cells with homogeneous identities. Instead,...

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Achondroplasia is the most common short-limbed short-statured skeletal dysplasia, affecting more than 300,000 people worldwide. The condition is caused by a recurrent pathogenic variant in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, affecting growth of the long bones, spine, and craniofacial skeleton. Characteristic features are disproportionate short stature (adult height about 124-132 cm), short arms and legs, and a large head with frontal bossing and midface hypop...