Achondroplasia in a Twin

Achondroplasia.

Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...

In brief: Achondroplasia.

Hereditary Achondroplasia in the Rabbit

Pathological observations on hereditary achondroplasia in the rabbit have been described. At autopsy, the chief features of interest are: reduced size with disproportionately shortened extremities and large head, cutaneous and subcutaneous edema of variable degree and distribution, small shortened bones with a cartilaginous appearance and texture, immature teeth, and cleft palate in one-fourth ...

Fgfr3 Signaling in Achondroplasia: a Review

Achondroplasia and related chondrodysplasias are caused by heterozygous mutations of fibroblast growth factor receptor 3 (FGFR3). Virtually all patients with achondroplasia have the same mutation, and all of the FGFR3 mutations activate the FGFR3 signal transduction pathways. There is remarkable correlation between specific mutations and the severity of clinical phenotypes manifestations. The m...

Clinical management of achondroplasia.

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...