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.

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.

[Feet deformation treatment in children with arthrogryposis multiplex congenita (AMC)--evaluation of the results].

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.

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.

[Congenital antero-lateral bow of the tibia--description of three cases].

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.

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.