Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about RUNX2 function, mutations and their phenotypic consequences in patients.

[Radiologic and clinical evaluation of the wrist in some movement disorders of children]. / Ocena radiologiczna i kliniczna nadgarstka w niektórych ukladowych znieksztalceniach narzadu ruchu u dzieci.

The wrist angle in X-ray pictures of the hand in 47 children, aged 6-16 years, treated for bone growth disorders, was evaluated. The obtained results were compared with the wrist angle in normal children. The increase of the wrist angle was observed in deformations: dwarfism, gargoylism and dysplasia multiplex, and the decrease of this angle in the Turner syndrome. The range of passive and active movements of the wrist was evaluated. Passive and active mobility of the wrist (especially the radial and the ulnar deviations) was smaller in the cases of increased wrist angle.

Intraarticular bleeding in children with hemophilia: the prevention of arthropathy.

The treatment of about 400 hemorrhages in the joints of 46 children with hemophilia A are described. The procedures varied according to the location and seriousness of the bleeding and the level of the clotting factor. We always transfused just enough cryoprecipitate to obtain a hemostatic level of factor VIII. When necessary, we would remove blood from the joint. Physical therapy was instituted. The average follow-up period after the initial intra-articular bleeding was 15 years. In patients with a severe form of hemophilia, only 24% of the affected knee joints were in stages III, IV, or V of arthropathy, which should be regarded as a positive result of treatment. We confirmed advanced arthropathy in 21% of the affected elbow joints. Arthropathy occurred only rarely in ankle joints. These results compare favorably to the results obtained among patients undergoing preventative infusions of factor VIII at home.

Ischemia of the femoral head in Perthes' disease: is the cause intra- or extravascular?

We examined selected parameters of the clotting and fibrinolytic system of 26 boys with aseptic necrosis of the femoral head and then evaluated the pressure of the fluid in the cavity of the hip joint with the help of ultrasonic examination. No disturbances were discovered in the coagulation system and ultrasonography ruled out the possibility that extravascular pressure had caused the necrosis. We confirmed a significantly greater level of alpha 1-antitrypsin in comparison with the control group, which may indicate a decrease in fibrinolytic activity and confirm the hypothesis that there is an intravascular pre-disposition towards the appearance of clots in the vascular system of the femoral head in patients with Perthes' disease.

Double-elevating osteotomy of tibiae in the treatment of severe cases of Blount's disease.

The results of operative correction of 13 cases of tibia vara in 10 children with advanced infantile Blount's disease are presented. All of the children were operated by "double-elevating" osteotomy. An essential element of this procedure was the reconstruction of the horizontal level of the medial tibial plateau. The average follow-up after treatment was 8 years 1 month. We recommend this method of osteotomy in cases of considerable depression of the medial tibial condyle with the defect of epiphyseal bone and as a bone bridge between the metaphysis and the epiphysis.

[Calcinosis tumoralis. Pharmacological alternatives to surgical treatment and its etiological justification]. / Calcinosis tumoralis. Farmakologiczna alternatywa leczenia operacyjnego i jej uzasadnienie etiologiczne.

A detailed case history of a 6 years old child, including biochemical and radiological examinations, has been presented. The disease started with a commonplace contusion of the patella and rapidly progressed after arthrotomy. Dihydroxy-aluminium-natrium carbonicum was applied as well as the low calcium and phosphorus diet. After 4 weeks of treatment, the joint recovered its correct contours; and after further 7 months, only vestigial calcification was observed.