Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substituan in the COL2A1 gene.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
congenita, on the other hand, is typified by hip joints that are affected disproportionately in relation to the more distal portion of the lower extremities.
In this article, we report the case of a child who was diagnosed with spondyloepiphyseal dysplasia congenita and who was found to have a significant conductive hearing loss with a Carhart's notch, indicating the likely presence of stapes footplate fixation.
Spondyloepiphyseal dysplasia (SED) is a rare, type II collagen disorder that is defined and diagnosed by its characteristic clinical and radiologic features.