Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles

JG Hall - European journal of medical genetics, 2014 - Elsevier
Arthrogryposis has been the term used to describe multiple congenital contractures for over
a century. It is a descriptive term and present in over 400 specific conditions. Responsible
gene abnormalities have been found for more than 150 specific types of arthrogryposis.
Decreased fetal movement is present in all affected individuals which leads to a variety of
secondary deformations. Decreased fetal movement (fetal akinesia) is associated with
increased connective tissue around the immobilized joint, skin dimpling overlying the …