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DIASTROPHIC DYSPLASIA: REVIEW AND A CASE REPORT

Citace:
MAŘÍK, I., ZEMKOVÁ, D., KUKLIK, M., KREPELOVÁ, A., KOZLOWSKI, K., POVYSIL, C. DIASTROPHIC DYSPLASIA: REVIEW AND A CASE REPORT. Zwierzyniec, Poland, 2016.
Druh: PŘEDNÁŠKA, POSTER
Jazyk publikace: eng
Anglický název: DIASTROPHIC DYSPLASIA: REVIEW AND A CASE REPORT
Rok vydání: 2016
Autoři: Prof. MUDr. Ivo Mařík CSc. , Daniela Zemková , Miloslav Kuklik , Anna Krepelová , Kazimierz Kozlowski , Ctibor Povysil
Abstrakt EN: The authors try to give a short review of knowledge on Diastrophic dysplasia (DD). Chief clinical manifestation and radiologic features are demonstrated on archive pictures from Ambulant Centre for Deffects of Locomtor Apparatus in Prague as well as primary histological and electronmicroscopical investigations. DD is a generalize disorder of cartilage tissue distinguished in perinatal period by short limbed dwarfism, clubfeet and abnormal thumbs, deformity of external ears, progressive scoliosis, small femoral head centres, epiphyseal invaginations and joint contractures. Mutations in gene DTDST (more than 30) cause synthesis of insufficiently sulphated proteoglycans in chondrocytes and fibroblasts. Consequence are generalized mesenchymal disorders that belong to a family of bone dysplasia. It contains two lethal diseases with severe and a mild involvement. A mild cases are called as a variant of DD or autosomal recessive multiple epiphyseal dysplasia.
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