Research Paper On Skeletal Dysplasias
Skeletal dysplasias are a group of disorders characterized by abnormalities in the growth and remodeling of cartilage and bone. These dysplasias affect the skull, spine, and extremities. Achondroplasia is the most common type of skeletal dysplasia. It is a genetic condition that results in abnormally short stature with disproportionately short limbs. It occurs in about 1 in every 15,000 to one in 40,000 births. In approximate 80% of the cases, it is caused by a spontaneous mutation to the FGFR3 gene, preventing the cartilage from converting into bone, especially in the long bones. About 20 percent of cases are inherited as an autosomal dominant trait from a parent who has achondroplasia.
The condition may be diagnosed in utero or after the
The condition may be diagnosed in utero or after the