How did dr john wasmuth discover achondroplasia?

Answer 1

Dr. John Wasmuth discovered achondroplasia in the early 20th century while studying skeletal dysplasias. He identified the condition through clinical observations of patients exhibiting disproportionate short stature and characteristic skeletal features. His research contributed to the understanding of the genetic basis of achondroplasia, linking it to a specific mutation in the FGFR3 gene. This foundational work helped establish the medical framework for diagnosing and studying the condition.