Article
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
Clinical dysmorphology - 1 Oct 2006
Sellick Gabrielle S, Hoornaert Kristein P, Mortier Geert R, King Catherine, Dolling Claire L, Newbury-Ecob Ruth A, Gargan Martin, Hall Christine M, Houlston Richard S, Smithson Sarah F
Abstract excerpt
We report a family with an unusual form of autosomal dominant spondyloepiphyseal dysplasia characterized by infantile-onset disproportionate short stature with relative shortening of the spine, thoracic kyphosis, lumbar lordosis, scoliosis and premature osteoarthritis of the joints especially of the hips. Radiological findings include mild platyspondyly, vertebral end plate irregularity, irregular femoral necks,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.