The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes’ disease is controversial. The clinical and radiological findings of Perthes’ disease may be indistinguishable from those of Gaucher’s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes’ disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes’ disease.

Genomic DNA of 119 children with radiologically-confirmed Perthes’ disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes’ disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G> A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes’ disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes’ disease. All 199 patients were negative for the studied COL2A1 mutations.

We found no genetic association between Perthes’ disease and either Gaucher’s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes’ disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear.

Background: Congenital dislocation of the patella can cause significant functional disability and is often associated with limb deformity in childhood. Two types or clinical manifestations of this condition have been previously described, namely the fixed lateral dislocation and the habitual or obligatory dislocation of the patella. Few surgical procedures have been suggested for the treatment of the complex condition.

Objective: We reviewed our surgical approach in ten knees (seven children) with both types of patellar dislocation, and evaluated the clinical and functional outcomes.

Methods: All our patients underwent an extensive sub-periosteal mobilization of the extensor mechanism from the lateral side of the thigh combined anteriorly with plication of the medial patellar retinaculum. This procedure was supplemented by medialization of half of patellar tendon in the skeletally immature patients, and by tibial tuberosity transfer that was performed in one skeletally mature patient.

Results: In six children, patellar dislocation was a part of a diagnosed syndrome, namely Down (3 patients), Larsen (1 patient), Rubinstein-Taybi (1 patient) and fibular hemimelia (1 patient). Six knees had fixed type and four (all Down syndrome) had obligatory type of patellar dislocation. Average age at surgery was 9.5 years (range 3.5–14) and the mean follow-up period was 19 months (range 7–33). There was no recurrence during the follow-up period. Two children with Down syndrome, who had flexion contraction and were non-ambulatory, began to walk three months and five months after the surgery. A significant resolution of the valgus deformities was obtained in the operated knees. Two complications were recorded, an undisplaced supracondylar fracture following removal of plastic cast and transitory peroneal nerve palsy.

Conclusions: Abnormal anatomical muscular and bony changes, soft tissue structural changes and limb alignment contribute to patellar dislocation and to subsequent clinical deterioration and deformity progression. Our surgical intervention aimed to realign the extensor mechanism and was effective in treating both types of congenital dislocation of the patella. Based on our experience, the long-standing habitual dislocation is accompanied by changes in the extensor mechanism of the knee that are similar to those occurring in the fixed patellar dislocation and therefore should be addressed surgically in a similar manner.

A congenital, unilateral, fixed flexion deformity in a neonate was diagnosed as a congenital absence of the knee. A single cartilage mass, with fusion of the lower femoral and upper tibial ossification centres, was demonstrated by imaging studies. This condition has been reported in the literature only once before. Surgery on our patient, which was performed at the age of two years, consisted of separation of the fused cartilaginous anlage and gradual correction of the deformity using an Ilizarov frame.

We believe that soft tissue release and articulated hip distraction distinguishes itself in the short term as a good salvage procedure for late onset severe Perthes disease of the hip.

Our series is made of 10 patients with late onset Perthes disease. All 10 patients were above 9 years of age at diagnosis (average = 11 years). There were 7 boys and 3 girls in the series. All patients had significant limp and pain with positive Trendelenburg sign. All patients used crutches or wheelchairs and had symptoms for a period of 0.5 to 3 years before the operation; all hips had limited ROM. Two patients had previous soft tissue release. There were 2 children with Down syndrome and 1 child had Gleophysic Dysplasia. On preoperative radiographs, 8 patients had a saddle shape subluxating femoral head with hinge abduction and 2 subluxations only. Nine hips were graded Catterall IV and Herring C and 1 hip Catterall III Herring B. There were at least 3 and mostly 4 Catterall prognostic risk signs for these hips. All patients had a broken Shenton line, increased medial joint distance and low Epiphyseal index before surgery.

After adductor and ileopsoas release an orthofix hinged apparatus for distraction is applied to the hip. The distraction continues until overcorrecting of Shenton line achieved. The external fixator is left in place for 4–5 months while in the apparatus flexion and extension of the hip is possible and encouraged. The follow-up ranged from 0.5 to 3 years. At last follow-up all patients were walking freely with improved hip ROM. All patients resumed daily ambulatory status and 2 were involved in regular sports. Latest radiographs showed that the saddle shape disappeared in 7 of 8 hips, in all patients hip subluxation decreased as measured by medial joint distance and Shenton line was corrected to between 0.6 mm. The Epiphysis index and joint congruency improved in most cases.

The level of satisfaction from the operation was very high for all patients and their parents.

Drawing of final conclusion will be possible only after assessing the long-term results.

Club foot can be diagnosed by ultrasound of the fetus in more than 60% of cases. We have correlated the accuracy of the prenatal findings in 281 ultrasound surveys with the physical findings after birth and the subsequent treatment in 147 children who were born with club foot.

The earliest week of gestation in which the condition was diagnosed with a high degree of confidence was the 12th and the latest was the 32nd. Not all patients were diagnosed at an early stage. In 29% of fetuses the first ultrasound examination failed to detect the deformity which subsequently became obvious at a later examination. Club foot was diagnosed between 12 and 23 weeks of gestation in 86% of children and between 24 and 32 weeks of gestation in the remaining 14%. Therefore it can be considered to be an early event in gestation (45% identified by the 17th week), a late event (45% detected between 18th and 24th weeks) or a very late event (10% recognised between 25th and 32nd weeks). We cannot exclude, however, the possibility that the late-onset groups may have been diagnosed late because earlier scans were false-negative results. The prenatal ultrasonographic findings were correlated with the physical findings after birth and showed that bilateral involvement was more common than unilateral. There was no significant relationship between the prenatal diagnosis and the postnatal therapeutic approach (i.e., conservative or surgical), or the degree of rigidity of the affected foot.

The conventional osteotomies used to treat infantile tibia vara (Blount’s disease) may require internal fixation and its subsequent removal. These techniques, which carry the risk of traction injury, and potential problems of stability and consolidation, do not always succeed in correcting the rotational deformity which accompanies the angular deformity.

We have used a new surgical approach, the serrated W/M osteotomy of the proximal tibia, to correct infantile tibia vara in 15 knees of 11 patients. We present the results in 13 knees of nine patients who have been followed up for a mean of eight years. The mean angular correction achieved after operation was 18 ± 5.8°. The mean femorotibial shaft angle was corrected from 14.2 ± 3.7° of varus to 4.6 ± 4.4° of valgus. At the last follow-up, the mean angular correction had reduced to 1.3 ± 4.9° of valgus without compromising the rotational correction and the overall good clinical results. All the patients and parents were satisfied, rating the result as excellent or good. There were no major postoperative complications and no reoperations. Eight patients were free from pain and able to perform physical activities suitable for their age. One complained of occasional pain. This procedure has the advantage of allowing both angular and rotational correction with a high degree of success without the need for internal fixation.

Primary subacute haematogenous osteomyelitis (PSHO) of the small bones of the foot is a rare and infrequently considered cause of a limp in children. We describe 11 patients with PSHO, of whom nine were under three years of age, who had a limp with few symptoms. The talus was involved in 36%. Bone scans were positive in all patients and led to localisation of the lesion in two. The radiological features included soft-tissue swelling, an osteolytic lesion in the talus and the calcaneus and a sclerotic appearance of the cuboid and the navicular bones. All patients except one were cured with antibiotics.

We prospectively evaluated the percutaneous injection of autogenous bone marrow for the treatment of active simple bone cysts in ten consecutive children with cysts in the proximal humerus, proximal femur or tibia. The treatment included percutaneous biopsy, aspiration of fluid and the injection of autogenous bone marrow aspirated from the iliac crest.

All the patients became painfree after a mean of two weeks and resumed full activities within six weeks. All ten cysts consolidated radiologically and showed remarkable remodelling within four months. Review at 12 to 48 months showed satisfactory healing without complications. Percutaneous injection of autologous bone marrow appears to be an effective treatment for active simple bone cysts.

We performed electrophysiological studies on both legs of 52 children, aged from 3 months to 15 years, with idiopathic club foot. In only nine (17%) was no abnormality found. Isolated peroneal nerve damage was seen in 14 (27%). Abnormality of both peroneal and posterior tibial nerves was found in five (10%). Four patients (8%) had evidence of isolated spinal-cord dysfunction, whereas combined spinal-cord and peripheral-nerve lesions were seen in 14 (27%). Six patients (11%) had variable neurogenic electrophysiological patterns. In 13 patients in whom the studies were repeated neither progression nor improvement of the electrophysiological parameters was observed. Pathological electrophysiological findings were found in 66% of conservatively-treated patients. In the 43 patients treated surgically, all 16 with fair and poor results had pathological electrophysiological findings and 12 required further operations. Multiplicity of the pathological findings was related to the severity of the deformity of the foot; normal studies represent a good prognostic sign. Electrophysiological studies are useful in idiopathic club foot with residual deformities after conservative or operative treatment. Our findings support the theory that muscle imbalance is an aetiological factor in idiopathic club foot.