A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation
نویسندگان
چکیده
منابع مشابه
A case report of spondyloepiphyseal dysplasia congenita.
Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. Patients also frequently suffer from atlanto-axial instability due to os odontoideum. Compression of the spinal cord caused by atlanto-axial instability is a common, serious complication...
متن کاملStructural Variations in Articular Cartilage Matrix Are Associated with Early-Onset Osteoarthritis in the Spondyloepiphyseal Dysplasia Congenita (Sedc) Mouse
Heterozgyous spondyloepiphyseal dysplasia congenita (sedc/+) mice expressing a missense mutation in col2a1 exhibit a normal skeletal morphology but early-onset osteoarthritis (OA). We have recently examined knee articular cartilage obtained from homozygous (sedc/sedc) mice, which express a Stickler-like phenotype including dwarfism. We examined sedc/sedc mice at various levels to better underst...
متن کاملLethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.
متن کاملSPONDİLOEPİFİZYAL DİSPLAZYA KONJENİTA (Olgu Sunumu) SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (Case Report)
Spondiloepifizyal displazya konjenitalı, karakteristik olarak normal eller ve ayaklar, paytak yürüyüş, pektus karinatus, kısa boyun ve yassı yüzlü 7 yaşında bir erkek vaka sunuldu. Radyolojik bulgular epifizler ve metafizlerde nokta kalsifikasyonlar, sklerotik ve radyolusent bölgelerle metafizin genişlemesiyle metafizyel disorganizasyon, generalize osteopeni ve geri kalmış kemik yaşını içerir. ...
متن کاملNeurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
BACKGROUND Spondyloepiphyseal dysplasia (SED) is a rare disease that causes vertebral abnormalities and short-trunk dwarfism. The two forms of SED are congenita and tarda. Each form arises in a genetically distinct fashion and manifests with a different set of complications. SED congenita is more severe, and patients usually display atlantoaxial instability and odontoid hypoplasia. Patients oft...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2012
ISSN: 0884-0431
DOI: 10.1002/jbmr.547