The evolving definition of a chondrodysplasia?
Most individuals who deal with chondrodysplasias would agree that this term refers collectively to a genetically and clinically heterogeneous group of disorders of skeletal development and growth. But they might not agree on what constitutes a specific chondrodysplasia. Indeed, the way in which a specific chondrodysplasia is defined has evolved substantially over the past several decades. David Rimoin, to whom this special issue is dedicated, has played a vital role in this evolution.
Horton
William A
WA
Research Center, Shriners Hospital, Department of Molecular and Medical Genetics, Oregon Health & Science University, 3101 SW Sam Jackson Park Road, Portland, OR 97201, USA. wah@shcc.org
D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics