Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13.
From the Department of Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242 (A.H.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (G.G.); and Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan (G.N.).
Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplasias termed Because type II collagen is also located in the vitreous body of the eyes and inner ears, type II collagenopathies are commonly associated with vitreoretinal degeneration and hearing impairment. Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler group. Read More