BACKGROUND: Proximal Femoral Focal Deficiency (PFFD) is the most proximal manifestation of a syndrome involving Congenitally Shortened lower Limbs (CSL), which also affects the fibula and midline metatarsals. This pattern of congenital human long bone deficiencies corresponds, in a time dependent manner, to the failed ingrowth pathways of new blood vessels of the growing embryonic limb. The distal femoral condyles are, in contrast, served by an alternative vascular supply from around the knee joint, and so remain resistant to the CSL deficiency. AIM: We hypothesize that embryonic vascular dysgenesis causes PFFD, as well as the cardinal features of the Femoral, Fibular and midline Metatarsal deficiencies (FFM) syndrome. RESULTS: Arteriography of CSL with PFFD reveals diminution or failed formation of the Femoral Artery (FA), which corresponds to downstream skeletal reductions. It may also reveal preservation of the primitive Axial Artery (AA) of the embryonic limb. The combination of missing and retained primitive vessels inform the time, place, and nature of the etiologic vascular events. This suggests that PFFD is the visible expression of a normally prefigured cartilaginous scaffold of the femur, which develops in conformity with the available pattern of blood vessels present. The teratogen thalidomide, known to affect the forming embryonic vasculature, also produces PFFD indistinguishable from the naturally occurring entity. CONCLUSION: The entire spectrum of PFFD, including phocomelia, fibular, and metatarsal dystrophisms, should thus be regarded as downstream skeletal results of embryonic arterial dysgeneses.
- MeSH
- arteria femoralis * abnormality embryologie MeSH
- femur * abnormality krevní zásobení embryologie MeSH
- fibula abnormality krevní zásobení MeSH
- lidé MeSH
- metatarzální kosti abnormality MeSH
- vrozené deformity dolní končetiny * embryologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- MeSH
- femur * abnormality diagnostické zobrazování MeSH
- lidé MeSH
- novorozenec MeSH
- vrozené deformity dolní končetiny * diagnostické zobrazování patologie terapie MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
PURPOSE OF THE STUDY: Temporary hemiepiphyseodesis using figure-eight plates is currently one of the main surgical techniques to correct axial deformities of lower limbs in paediatric patients. Comprehensive analysis, correct indication and monitoring of treatment are the basic prerequisites for successful therapy. The aim of the study was to analyse parameters that could become an alternative to standard parameters used nowadays, namely the inserted screw angle (SA), and a new parameter - condylar ratio (CR). MATERIAL AND METHODS: The study included 47 patients treated at the Department of Paediatric Surgery, Orthopaedics and Traumatology at the University Hospital in Brno between 2014 and 2021 and diagnosed with idiopathic bilateral axis deviation of lower limbs, namely genu valgum. After having met the inclusion criteria, the patients underwent a clinical check-up, and long leg radiographs were also obtained. Anthropometric parameters (age, sex, BMI, intermalleolar distance (IMD)), duration of treatment as well as radiographic parameters - mechanical lateral distal femoral angle (mLDFA), mechanical medial proximal tibial angle (mMPTA), SA and CR, and their derived parameters expressing the change per unit time and defined as a rate of correction (r-mLDFA, r-mMPTA, r-SA, r-CR) were recorded. The obtained values were subsequently statistically analysed, namely by comparing the pretreatment and posttreatment values and through correlation analysis. RESULTS: The mean age of the population was 11.4 years, BMI 26.9 and IMD 14.1. The mean duration of treatment in the study population was 13.9 months. A significant difference was established between the pretreatment and posttreatment values of all measured radiographic parameters (p<.05). A significant correlation was identified between r-mLDFA and r-SA (p=.002), while no significant correlation was found between r-mLDFA and r-CA or between r-CA and r-SA (p=.650; p=.884). DISCUSSION: Comprehensive evaluation of the treatment of axial deformities of lower limbs and its optimization are crucial for successful therapy. In addition to the standard mechanical or even anatomical parameters assessing the axis deviation of lower limbs, the authors seek to evaluate also other parameters that may provide a new insight into the deformity or offer additional benefits such as reduced radiation exposure. Such a parameter is for instance the angle of inserted screws in the eight-figure plate system, although there is a difference in opinion among the authors. In our study, we concluded that it is the change in the screw angle that significantly correlates with the mechanical axis of the femur, and thus, under certain circumstances, can become a monitoring parameter. Contrarily, the condylar ratio is a newly introduced quantity which in our study did not show any significant correlation with the mechanical axis of the femur, although a significant change before and after therapy was observed. CONCLUSIONS: A significant correlation was established between the rate of change in screw angle and r-mLDFA, which may, under certain circumstances, serve as a parameter for treatment evaluation, with the advantage of reduced radiation exposure since the assessment requires one scan of the knee joints under loading only. On the other hand, though, no significant correlation was established between the CR as the newly defined parameter and r-mLDFA, which is why it can only be considered as a complementary parameter rather than a decisive one. KEY WORDS: temporary hemiepiphysiodesis, growth plate, genua valga, screw angle, correlation.
- MeSH
- dítě MeSH
- femur chirurgie abnormality diagnostické zobrazování MeSH
- genua valga * chirurgie MeSH
- kostní destičky * MeSH
- kostní šrouby * MeSH
- lidé MeSH
- mladiství MeSH
- radiografie metody MeSH
- tibie chirurgie abnormality diagnostické zobrazování MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
The authors present the clinical and radiological findings of two siblings in whom two previously unpublished heterozygous cis-variants (c.236T>G and c.251A>C ) in the MMP13 gene were identi- fied by genetic testing. We propose to use the name “Metaphyseal anadysplasia with varus femurs and small kneecaps” for this newly described variant of metaphyseal anadysplasia type 1.
- Klíčová slova
- metafyzární anadysplazie,
- MeSH
- femur abnormality růst a vývoj MeSH
- genua vara diagnóza etiologie MeSH
- lidé MeSH
- patela abnormality růst a vývoj MeSH
- předškolní dítě MeSH
- radiografie metody MeSH
- sourozenci MeSH
- vrozené deformity dolní končetiny diagnostické zobrazování diagnóza komplikace MeSH
- vývojové onemocnění kostí * diagnostické zobrazování diagnóza klasifikace vrozené MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Geografické názvy
- Česká republika MeSH
V druhé části tohoto přehledového článku předkládáme pohled na aktuálně používané diagnostické metody VDK od věku po začátku chůze do adolescence, které jsou běžně dostupné na každém ortopedickém pracovišti. Zahrnují klinické vyšetření a radiografické vyšetření. Při jejich osvojení lze posoudit stav kyčelního kloubu po VDK a rozhodnout se pro správný způsob léčení k oddálení nebo zastavení progrese degenerativních změn.
In the 2nd part of this review article we offer an overview of the currently used diagnostic methods of DDH from walking age to adolescence. These methods are available in all orthopaedic departments. They include physical examination and radiographic imaging. After the learning to use these methods it is possible to evaluate the status of hip joint and to decide an adequate treatment option in order to postpone or stop the progression of degenerative changes.
- MeSH
- anteverze kosti MeSH
- artrografie MeSH
- dítě MeSH
- femur abnormality MeSH
- kyčelní kloub abnormality anatomie a histologie diagnostické zobrazování MeSH
- lidé MeSH
- mladiství MeSH
- počítačová rentgenová tomografie MeSH
- předškolní dítě MeSH
- radiografie MeSH
- ultrasonografie MeSH
- vývojová kyčelní dysplazie * diagnostické zobrazování diagnóza MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- Publikační typ
- přehledy MeSH
První vydání 132 stran : ilustrace (převážně barevné) ; 29 cm
- MeSH
- acetabulum abnormality chirurgie MeSH
- artróza kyčelních kloubů MeSH
- femoroacetabulární impingement diagnóza chirurgie patofyziologie ultrasonografie MeSH
- femur abnormality chirurgie MeSH
- kyčelní kloub chirurgie MeSH
- miniinvazivní chirurgické výkony MeSH
- Publikační typ
- monografie MeSH
- Konspekt
- Ortopedie. Chirurgie. Oftalmologie
- NLK Obory
- ortopedie
BACKGROUND: Because there is limited information concerning the cruciate ligaments in proximal femoral focal deficiency, knee arthroscopy was used to identify the changes of cruciate ligaments and their relation to the different types of this deficiency. METHODS: Knee arthroscopy was performed in 21 consecutive patients with deficiency types III, IV, VII-IX using the Pappas classification. A new classification of the knee was created. It contains types I, II, III according to the findings of the anterior cruciate ligament (ACL) (type I: normal, type II: hypoplasia, type III: aplasia) and 3 subtypes A, B, C according to the findings of the posterior cruciate ligament (PCL) (type A: normal, type B: hypoplasia, type C: aplasia), respectively. Instrumented and radiologic drawer testing was provided additionally in 2010. RESULTS: The changes of the cruciate ligaments were found in all but 1 patient. Type I was found in only 2 patients. In 1, both cruciate ligaments were intact (type IA). In the other patient, the ACL was intact, but the PCL was absent (type IC). Hypoplastic ACLs (type II) were found in 4 patients, namely in 3 patients with normal PCLs (type IIA), whereas in 1 patient the PCL was absent (type IIC). In the majority of patients, the ACLs completely failed (type III, 15 patients). Absence of both cruciate ligaments was found in 8 patients (type IIIC). PCLs were intact in 4 patients (IIIA) or were hypoplastic in 3 patients (IIIB), respectively. Instrumental drawer testing was not reliable in patients of our group. Radiologic testing showed a posterior shift of the tibia in the majority of patients on the affected side. Anterior and posterior drawer tests were increased in a majority of patients, but did not directly correlate to the presence/absence of cruciate ligaments. CONCLUSIONS: Variable changes of the cruciate ligaments were found in all but 1 patient with proximal femoral focal deficiency. These changes were not related to the type of Pappas classification. Despite the lower clinical relevance of the changes in majority of patients, imaging of cruciate ligaments is recommend before lengthening of the extremity to avoid dislocation of the knee. LEVEL OF EVIDENCE: I - Testing of previously developed diagnostic criteria in series of consecutive patients.
- MeSH
- artroskopie metody MeSH
- dítě MeSH
- femur abnormality radiografie MeSH
- kolenní kloub patologie radiografie MeSH
- lidé MeSH
- ligamentum cruciatum anterius patologie radiografie MeSH
- ligamentum cruciatum posterius patologie radiografie MeSH
- mladiství MeSH
- předškolní dítě MeSH
- tibie abnormality MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE OF THE STUDY Congenital femoral deficiency (CFD) is a rare and complex deformity. The results and complications of surgical correction of this deformity using ring fixators (Ilizarov/Taylor Spatial Frame) have been evaluated. MATERIAL AND METHODS We retrospectively reviewed a consecutive series of 30 patients with CFD, between the ages of 3.3 and 17 years (mean, 9.3 years), with 35 lengthening procedures. Ten cases were treated with an llizarov frame, 25 cases with a Taylor Spatial Frame (TSF). RESULTS The average lengthening at femoral osteotomy was 44.3 mm. Nine patients underwent an additional tibial lengthening by an average of 24.2 mm. The total lengthening was 50.5 mm (28-85 mm). A fracture after removal of the fixator occurred in 25.7% of the cases, and a pin-site infection with the subsequent need of operative revision was found in 8.5%. A subluxation of the knee joint was observed in 11.4% and a persistent limitation of the knee joint range of motion in 22.8%. CONCLUSIONS Despite several complications, the use of ring fixators, especially the TSF, is an effective method for treatment of this complex deformity. The complication rate was similar with the use of either ring fixator. Some complications can be decreased with experience. The risk of knee dislocation can be reduced by joint bridging and fractures after frame removal can be avoided by prophylactic rodding.
