A kindred of 15 affected individuals in five generations is described with autosomal dominant inheritance of bilateral five-fingered hand. Some of them had additional pre-axial polydactyly of the fingers or toes and some had partial or complete absence of the tibia. The range of expression of the gene is variable and genetic advice to these families must take account of the whole spectrum of defects. The function of both upper and lower limbs was improved by surgery. A distinction is drawn between the five-fingered hand shown in this family and the different deformity of a four-fingered hand with a triphalangeal thumb

1. A family of six generations, consisting of 114 members affected by epiphysial dysplasia of the lower extremities, is described. 2. Twenty-two males and twenty-three females were affected, while thirty-two males and thirty females were unaffected. Seven members of the family could not be traced. 3. Variations from Fairbank's description of dysplasia epiphysialis multiplex are discussed. In the family here reported the lower limbs only were affected and the severity of the disease was very variable. 4. Long term follow-up studies are presented

Aims

The purpose of this study was to compare outcomes of combined total joint arthroplasty (TJA) (total hip arthroplasty (THA) and total knee arthroplasty (TKA) performed during the same admission) versus bilateral THA, bilateral TKA, single THA, and single TKA. Combined TJAs performed on the same day were compared with those staged within the same admission episode.

Aims

In a randomized controlled trial with two-year follow-up, patients treated with suture button (SB) for acute syndesmotic injury had better outcomes than patients treated with syndesmotic screw (SS). The aim of this study was to compare clinical and radiological outcomes for these treatment groups after five years.

There are few reports on function after limb salvage surgery using the Ilizarov technique, and none that document the pattern of recovery or predict when maximum function returns. This prospective, longitudinal study documents the baseline functional abilities of 40 consecutive patients with nonunion of a fracture in the lower limb. Patients were studied for at least two and a half years following the completion of surgery. Function was measured by timed tests of functional performance and by the Toronto Extremity Salvage Score self-reported patient questionnaire. Recovery was slowest in the early stages after removal of the frame and greatest between six months and one year. Statistically significant improvement continued up to, but not beyond two years. This observation has important implications for the length of follow-up incorporated into the rehabilitation programmes for patients, predictions of patient status in regard to compensation and for the design of future studies to evaluate functional outcome

Thirty-three patients with reflex sympathetic dystrophy were studied prospectively to ascertain the pressure-pain threshold of affected and unaffected limbs. The affected side had a lower threshold which was found to be statistically significant. In all 18 patients with upper limb involvement, the pain threshold was reduced on the affected side, but this applied to only 11 of the 15 with leg involvement. This difference may be because patients with lower limb symptoms had been referred later in the course of the syndrome. We showed by repeated tests that after an average of 49 days there was a slow return to normality. The estimation of pressure-pain thresholds may help in the earlier diagnosis of reflex sympathetic dystrophy

The lower limbs of five cadavers were dissected and the lengths of the muscle fibres and the weights of all the muscles below the knee were measured. From this information the relative strength and excursion of each muscle was determined. We found that the plantarflexors of the ankle were six times as strong as the dorsiflexors. We have therefore discarded the concept of "muscle balance" in tendon transfer surgery and propose that task appropriateness should be the guide. The constant relationship between muscle fibre length and muscle excursion means that contractures are accompanied by decreased excursion. Tendon lengthening improves deformity but does not improve the decreased active range of movement

Gentamicin incorporated in beads of polymethylmethacrylate has been shown capable of being released over a period of several months in concentrations sufficiently high to control most pathogens. The therapeutic efficacy of such beads has been demonstrated in a model of osteomyelitis of the femur in the dog. Good tolerance has been shown, both in the animal model and in tissue cultures. In forty-one patients with infection of either bone or soft tissue, mainly of the lower limb, the findings were similar. The concentrations in serum and urine were low, which excludes side-effects. The insertion of gentamicin-PMMA beads may prove to be a valuable new form of local antibiotic therapy

Rockers are applied to lower limb casts to assist walking but there is little information on their biomechanical effects. The performances of 10 commercially available rockers were compared. They were applied to a below-knee cast worn by a normal subject who was also tested walking in the cast alone. Gait analysis was used to evaluate kinematic and kinetic data. The design of rocker had no effect upon the kinematics of walking. However, using new criteria for kinetic assessment of rocker function (tibial floor angular velocity and centre of pressure progression), most designs had a deleterious effect on the biomechanics of gait. Only two rockers approached the ideal kinetic criteria

In a prospective study we attempted to define the role of lumbar discography in the investigation of patients with low back pain with or without non-dermatomal pain in the lower limb. The records of 195 patients were studied at least two years after a technically successful operation. Of 137 patients in whom discography had revealed disc disease and provoked symptoms, 89% derived significant and sustained clinical benefit from operation. Of 25 patients whose discs showed morphological abnormality but had no provocation of symptoms on discography only 52% had clinical success. These findings support the continued use of lumbar discography for the investigation of this particular group of patients

Ball-and-socket ankle is a rare deformity associated with such pre-existing conditions as congenital shortening of the lower limb, coalition of tarsal bones, absent digital rays and aplasia or hypoplasia of the fibula. We have observed seven patients with this deformity for an average of six years from initial examination at 20 days to 3.5 years. Arthrography showed that the configuration of the ankle was apparently normal in patients under 10 months of age and that a ball-and-socket joint develops by four to five years of age, possibly in compensation for the loss of inversion and eversion caused by tarsal coalition. Ball-and-socket joint is therefore probably not congenital, but is an acquired deformity secondary to various pre-existing congenital conditions

1. A controlled trial of ninety-nine patients with myelomeningocele has shown that immediate closure did not result in any significant (at P<0.05) reduction in mortality or alteration in muscle power. 2. If required, closure of the back may be delayed for forty-eight hours after birth or longer to allow a detailed clinical assessment of the infant. 3. The muscle power in the lower limbs is a useful guide to prognosis both in relation to mortality and the incidence of hydrocephalus. 4. Mortality is greatest in the first year of life. 5. In the urinary tract the commonest anomaly is neurogenic bladder. Other congenital anomalies were not more common than in children generally

We compared the results of primary ultrasonographic examination of 163 children with 224 suspected fractures with the subsequent radiological findings. The aim was to assess the value of ultrasound in the diagnosis of fractures in children. We found a good correlation for fractures of the long bones of the upper and lower limbs. Ultrasound was most reliable for the detection of simple femoral and humeral diaphyseal fractures and fractures of the forearm. It was less dependable for compound injuries and fractures adjacent to joints, lesions of the small bones of the hand and foot, non-displaced epiphyseal fractures (Salter-Harris type 1) or those with a fracture line of less than 1mm. We were able to distinguish several types of fracture in which the use of ultrasound alone gave reliable information and further radiography was unnecessary. We discuss the advantages and disadvantages of skeletal ultrasonographic studies in children

This paper describes a new technique for greater trochanteric hip arthroplasty in which the femur is divided at the subtrochanteric level and the upper fragment rotated through 180 degrees to place the greater trochanter deeply in the acetabulum; with the lower limb in the weight-bearing position the fragments are then fixed with a short intramedullary nail. This operation was carried out in a boy aged 4 years 6 months in whom the femoral head and neck had been destroyed by septic arthritis. Ten years later leg-lengthening was performed. When reviewed at the age of 20, he had a stable hip, a satisfactory range of painless movement, and shortening of only 2.5 cm; he could walk and run for long distances with only a slight abductor lunch

Objectives

X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. It accounts for approximately 80% of familial cases of hypophosphataemia and serves as the prototype of defective tubular phosphate (PO4³⁺) transport, due to extra renal defects resulting in unregulated FGF23 activity. XLHR is caused by loss-of-function mutations in the PHEX gene. The aim of this research was to identify the genetic defect responsible for familial hypophosphataemic rickets in a four-generation Chinese Han pedigree and to analyze the function of this mutation.

1. The Küntscher method of intramedullary reaming and nail fixation was applied to thirty-five cases of non-union of the lower extremity, twenty femurs and fifteen tibias. A bone graft was generally not used. 2. Most of the patients were allowed to bear weight and to exercise the joints within a few days of the operation. Additional measures such as pre-operative surgery for infection or distraction of shortening were used in some cases. 3. The pseudarthrosis healed in all cases, even when infection was present. The nails were generally not removed until after healing had occurred. 4. It is concluded that the Küntscher method gives remarkably rapid consolidation and restoration of function even in difficult cases of non-union of shaft fracture, particularly of the femur

We have analysed retrospectively the relationship between the axial parameters of alignment of the lower limb and the recurrence of varus deformity after high tibial osteotomy. We studied 29 patients (37 knees) with a mean age at surgery of 66 years. The mean follow-up was for 7.4 years (5 to 10.5). Recurrence of varus deformity was defined as an increase in the femorotibial angle of 3° or more, compared with that obtained six months after the operation. There were four patients (four knees) with recurrence of varus deformity. They had a greater varus inclination of the distal femur than those without varus recurrence. An association between varus inclination of the distal femur and horizontal obliquity of the joint surface was observed. Excessive obliquity prevents the shift of weight-bearing to the lateral compartment, and may cause a recurrence of varus deformity after high tibial osteotomy

The spinal stenosis syndrome is a potential hazard when congenital or developmental narrowing of the bony canal, particularly in its lateral recesses where it can be demonstrated by axial tomography, places the emergent nerve root and its blood supply at risk to further small compressive elements. When lumbar disc degeneration allows rotatory and lateral instability, posterolateral bulging of the annulus fibrosus into the root canal occurs when weight is taken on the ipsilateral lower limb. Symptoms of the spinal stenosis syndrome do not arise until the development of this instability. To relieve the symptoms, the nerve root must be freely mobilised and decompressed by full lateral decompression, with partial or total facetectomy if necessary, by enucleation of the intervertebral disc and by removal of the posterolateral portions of the annuli fibrosi

Aims

The aim of this study was to report our experience at 3.5 years with outpatient total hip arthroplasty (THA).