Bone Abstracts

The fibroblast growth factor receptor 3 (FGFR3) activation leads to dwarfism with a spectrum of severity, hypochondroplasia (HCH), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). Interestingly, FGFR3 mutations localized at the same position in the tyrosine kinase domain are responsible for HCH (p. Lys650Asn), SADDAN (p. Lys650Met) and TD (p. Lys650Glu).The mechanisms of FGFR3 activation ...

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FGFR3 activating mutations are responsible for achondroplasia (ACH), the most common form of dwarfism. ACH clinical features include short stature, midface hypoplasia, frontal bossing and prognathism and both endochondral and membranous ossifications are disturbed. It is unknown if abnormal mandibles are present in ACH. To date, it is believed that primary (Meckel’s) and secondary (angular and condylar) cartilages play important roles in determining the final shape and po...