SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet. The vertebral bodies had increased thickness of hyaline cartilage which enveloped ossification centers. The vertebrae and discs also had abnormalities in size, shape and structure. These anomalies were most likely the consequence of notochordal remnants presence within the intervertebral discs and in the vertebral bodies. The advantages of MR imaging in bone dysplasias caused by TRPV4 mutations are emphasized in this article.

[Feet deformation treatment in children with arthrogryposis multiplex congenita (AMC)--evaluation of the results]. / Leczenie deformacji stóp u dzieci z artrogrypoza--ocena wyników.

In Arthrogryposis Multiplex Congenita (AMC) feet deformations are frequent. They have form of talipes equinovarus, or less frequently of plano-valgus. The study included influence of various surgical techniques on final result of foot treatment in arthrogryposis. The aim of the study was to analyse errors in classification and surgical technique influencing the final result. Between 1986 and 2004 21 AMC children were surgically treated. In all of the patients the disease was accompanied by heavy feet deformations: 38 talipes equinovarus deformations and 1 plano-valgus. Age of the treated children was between 7 months and 4 years. All feet required surgery. Follow-up period was 3 to 20 years, mean 12.5 years. During the follow-up examination the following elements were evaluated: foot appearance, gait mechanics, foot load level, wearing commercial shoes or orthopaedic equipment. Additionally radiography of feet in AP and lateral projection was performed. Posterior liberation was performed in 21 feet, peritarsal reposition in 18 feet. In case of 13 feet the primary correction was satisfactory. In the remaining 26 feet re-surgeries were necessary, including astrogolectomy in 9 feet. 13 good results were obtained--in which feet were properly loaded, adapted to common shoes and painless. 15 satysfying results were obtained--the feet required orthopaedic shoes; and 11 bad results, where temporary foot pain additionally occurred. Excessively conservative primary surgery in case of heavy foot deformations was a cause for multiple re-surgeries.

Severe, atypical form of dyschondrosteosis (report of two cases).

UNLABELLED: We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. CONCLUSION: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.

[Congenital antero-lateral bow of the tibia--description of three cases]. / Wrodzone przednio-boczne wygiecie goleni--opis leczenia trzech przypadków.

Three cases of antero-lateral bow of the tibia has been presented, all of them had fracture of the tibia during observation. Age of patients varied from 1 to 4 years. In all cases the method of Ilizarov was used for axis correction. Elastic intramedullary nailing of the tibia was performed after axis correction. Good results encourage the usage of Ilizarov's method in the treatment of antero-lateral bow of the tibia in small children.

An evaluation of surgical outcomes in luxation and subluxation of the hip joint in children with cerebral palsy.

The goal of this work is to evaluate the suitability of the surgical operations used in severe forms of cerebral palsy with luxation or subluxation of the hips. The research involved 32 children with cerebral palsy and subluxation or luxation of the hip joint. 28 of these children had a severe form of quadriplega, and 4 had diplegia. In all cases, surgery was performed on the adductors, and in most cases on the bone system as well. Derotational-varizing osteotomies were performed 24 times, pelvic osteotomies using Dega's method 10 times, Salter's method seven times, Schanz's method 2 times, and triple pelvic osteotomy using Steele's method once. In three cases the femoral head was resected. The Salter and Dega osteotomies were evaluated as favorable in relation to the proper centering of the hip and securing it against renewed dislocation. On the other hand, over-correction of the increased neck-diaphysis angle caused a limitation in abduction, thus intensifying nursing difficulties. This method was evaluated particularly negatively in cases of pelvic tilt. In view of these outcomes in the surgical treatment of spastic hip luxations and subluxations, it would seem best to prevent dislocation by the appropriate rehabilitation and nursing procedures, and by early detection of dislocation.

The importance of densitometric testing in the evaluation of regenerated bone during long bone lengthening by the Ilizarov method.

Background. Lengthening a long bone by cutting it surgically and then stretching it a process laden with numerous complications. Among the greatest threats is surely the insufficient support strength of the lengthening limb due to inadequate calcification of the newly generated bone tissue. This leads to fractures, distortion of the axis, or lack of osseous consolidation around the newly formed bone. In order to reduce the number of such complications constant diligent monitoring of the entire process is necessary, from the moment treatment is commenced until the distraction apparatus is removed. The purpose of the present study was to evaluate the usefulness of densitometric testing at various stages in the process of lengthening long bones.
Material and method. The testing involved 17 children, in 20 limbs were lengthened by the Ilizarov method. The average shortening was 4,70 cm (range 3,5-13 cm). the article compares the results of density assessments of regenerated bone using ultrasonographic testing and densitometry.
Conclusions. Densinometric testing constitutes an important supplement to the evaluation of regenerated bone. This is an easy test to perform and repeat, enabling the physician to evaluate the degree of mineralization of the regenerated bone, reach conclusions regarding its consolidation and mechanical strength, and make a decision regarding the removal of the external stabilizer.