ba0001s3.1 | Extreme bone phenotypes | ECTS2013
Alanay Yasemin
Today, there are more than 450 well-characterized genetic skeletal disorders classified primarily on the basis of clinical, radiographic, and molecular criteria. Although individually rare, the overall birth incidence is estimated to be 1/5000 live births. Half a century ago, in the 1960s, individuals with disproportionate short stature were diagnosed either with achondroplasia (short-limbed dwarfism) or Morquio syndrome (short-trunked dwarfism). In time, delineation of numero...