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Conorenal dysplasia is a rare syndrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases., (Copyright (c) 2007 Wiley-Liss, Inc.)

The pathogenesis of multiple exostosis has been controversial with many theories put forward including the structural/mechanical theory, which emphasizes that the osteochondroma arises in the displaced growth plate cartilage penetrating a defective periosteum. Recently, molecular genetics has offered the neoplastic model with tumor suppressor genes implicated in the development and pathogenesis of exostosis. In this study, we demonstrated the spectrum of histological abnormalities in the developing exostosis present on the surface of the bone at the physis. Seven skeletally immature patients with multiple exostoses were used in this study. The patients' families were advised of and consented to the proposed study. Coincident with removal of symptomatic exostoses that was adjacent to the physis, a thin strip of bone with overlying periosteum was removed to include the edge of the physis. This was followed by formalin fixation and routine paraffin embedding. We demonstrated the earliest lesion as a microchondroma within the periosteum adjacent to the normal physis (also called the 'groove of Ranvier'). More mature progressively larger lesions showing enchondral ossification were seen distally. The periosteum and the perichondrium were intact with normal physis. Our observations give support to the fact that precursor cells in the periosteum adjacent to the physis (also called the 'groove of Ranvier') gives rise to the chondrocytes that clonally expands and develops into exostosis.

Other than those resulting from trauma and arthritis, disorders of the clavicle are uncommon. Some nontraumatic disorders are found only in infancy and childhood, such as birth fracture, infantile cortical hyperostosis, congenital pseudarthrosis, cleidocranial dysplasia, and short clavicle syndrome. Other nontraumatic disorders occur in both children and adults; these include anterior subluxation of the sternoclavicular joint, Friedrich's disease, hypertrophic osteitis, chronic multifocal periosteitis and arthropathy, and osteomyelitis. Some nontraumatic clavicular disorders are found only in adults, such as distal osteolysis. Because the description and nomenclature of these disorders arise from several medical disciplines, they often are confusing. Until clear, distinguishing features are described, it is advisable to combine some of the entities. This is especially true of the nonsuppurative inflammatory disorders of the clavicle, which appear to fall under the heading of spondyloarthropathy. Treatment varies by disorder and may include symptomatic and expectant management, drug therapy, and nonsurgical or surgical treatment.

A review of the results of medial distal tibial surface epiphysiodesis to correct valgus deformity in the growing child indicates that the bone age can be used to predict correction. When performed at the appropriate bone age, it may have some advantage over the use of staples or screws.

A retrospective review of 39 surgical procedures to correct bowlegs in achondroplasia was performed. Three operative procedures had been used sequentially over 27 years. Sixteen tibiae were treated by proximal closing wedge tibial osteotomy, proximal fibular epiphysiodesis and casts. Twelve tibiae were treated by opening wedge osteotomies using external fixation with no fibular shortening. Eleven tibiae were treated by the Ilizarov technique with 3-cm tibial lengthening, deformity correction, and distal translation of the proximal fibula. The Ilizarov technique is the most satisfactory method for correction of proximal bowlegs in early childhood. Distal tibial osteotomy and fibular shortening is recommended for correction of distal bow legs in older children.

Distal arthrogryposes are a group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies, and are transmitted by autosomal dominant inheritance. Many affected individuals present in an orthopaedic setting. The features of these syndromes are described to allow diagnosis, establish prognosis, provide family counseling, and treatment. Increased recognition will lead to improved knowledge of the natural history.

Unlabelled: The treatment of 30 consecutive adult patients with chronic draining osteomyelitis of the tibia was reviewed. There were four treatment patterns. Eight patients had local debridement with or without soft tissue coverage procedures or bone graft. Three patients had radical debridement and bone transport using a circular frame. Eight patients were treated by the Papineau grafting technique after debridement. Eleven patients had debridement and circular frame fixation to correct associated nonunion, malunion, or shortening. All patients received long-term antibiotic therapy. At an average of 6 years' followup (minimum, 2 years), two patients had persistent drainage and one patient had an aseptic nonunion. This experience affirms the value of the circular frame, of the Papineau graft, of bone transport, and of long-term antibiotics for treatment of chronic osteomyelitis of the tibia. There was successful limb salvage in all of the patients and successful treatment (fracture healing without drainage) in 27 of 30 patients., Level of Evidence: Therapeutic study, Level III-1 (case-control study). See the Guidelines for Authors for a complete description of levels of evidence.

A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality., ((c) 2004 Wiley-Liss, Inc.)

Bone is a dynamic tissue that is subject to the balanced processes of bone formation and bone resorption. Imbalance can give rise to skeletal pathologies with increased bone density. In recent years, several genes underlying such sclerosing bone disorders have been identified. The LDL receptor-related protein 5 (LRP5) gene has been shown to be involved in both osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype and turned out to be an important regulator of peak bone mass in vertebrates. We performed mutation analysis of the LRP5 gene in 10 families or isolated patients with different conditions with an increased bone density, including endosteal hyperostosis, Van Buchem disease, autosomal dominant osteosclerosis, and osteopetrosis type I. Direct sequencing of the LRP5 gene revealed 19 sequence variants. Thirteen of these were confirmed as polymorphisms, but six novel missense mutations (D111Y, G171R, A214T, A214V, A242T, and T253I) are most likely disease causing. Like the previously reported mutation (G171V) that causes the high-bone-mass phenotype, all mutations are located in the aminoterminal part of the gene, before the first epidermal growth factor-like domain. These results indicate that, despite the different diagnoses that can be made, conditions with an increased bone density affecting mainly the cortices of the long bones and the skull are often caused by mutations in the LRP5 gene. Functional analysis of the effects of the various mutations will be of interest, to evaluate whether all the mutations give rise to the same pathogenic mechanism.

Radiographic and clinical evaluation was done on 12 members of a kindred that included members with hip dislocation. Acetabular dysplasia was found in several members who did not have dislocation. This supports the concept that acetabular dysplasia is inherited and acts as a precursor to dislocation. Identification of infants with primary acetabular dysplasia may allow measures to prevent dislocation.

A case of avascular necrosis of the femoral head following heart transplantation in a 2-year-old child has been followed to skeletal maturity. Avascular necrosis is a well-known complication following steroid use in childhood. There are no reported cases of avascular necrosis following heart transplant in childhood. Similar cases should be reported.

An analysis of 148 radiographs of the tibia during skeletal maturation in patients with achondroplasia was performed. The fibula was always longer than the tibia. The distance between the proximal tibial and fibular physis was less than normal throughout growth. The distance between the distal tibial and fibular physis was normal in childhood and became increasingly greater during growth. Tibia varus increased during growth, and there was a particular increase in distal tibia varus toward the end of growth. The altered growth characteristics of the bones suggest a formulation of cause of bowlegs in achondroplasia.

Results of surgery to correct fixed flexion contracture of the knee and improve voluntary knee extension in 39 knees in 20 children (11 females, 9 males; mean age 12 years 8 months, age range 5 to 20 years) with cerebral palsy were analyzed. All patients had neuromotor disease and 18 children had spastic diplegia or quadriplegia. All patients could initiate voluntary knee extension but lacked full passive extension. Five patients (10 knees) were free walkers with a mean motor severity index of 19 and mean fixed knee contracture of 20 degrees. Fifteen patients (29 knees) were not free walkers and 13 were wheelchair ambulators. They had a mean motor severity index of 8 and mean fixed knee contractures of 30 degrees. Surgical procedures included various combinations of hamstring lengthening and/or posterior capsulotomy to allow free passive knee extension, with or without quadriceps mechanism shortening, to enhance voluntary extension. The best results were in patients who had hamstring lengthening, posterior capsulotomy, and quadriceps mechanism shortening.

Congenital or developmental shorting of the clavicle is an uncommon and isolated condition leading to a tangential position of the scapula. It presents in childhood as abnormal posture and may be familial. It causes minimal disability and affected patients do not require treatment.

Hip disease occurs in between 8% and 28% of patients with Down's syndrome, many of whom develop disabling pain. We have carried out total hip replacement in six adult patients (9 hips) with severe arthritis of the hip. The mean follow-up was 7.75 years (2 to 14). At the latest review, all had relief of pain and full hip function. Increasing longevity and a high incidence of hip disease in these patients suggest a greater role for total hip arthroplasty in the future.

The article provides an analysis of 102 interventions in 93 periprosthetic fractures of the femur contributed by multiple surgeons predominately in community practice. The authors find that treatment of periprosthetic fracture of the femur is problematic. Success in terms of arthroplasty function and fracture treatment is difficult to achieve. Specific treatment recommendations are made based upon the success and failures of this survey.

Eighty-five patients with cerebral palsy had modified adductor muscle transfers. A study of associated patient characteristics suggests that comparing adductor transfer with adductor release using postoperative radiographs, need for subsequent surgery, or postoperative motor skills is flawed by multiple variables. Adductor release and adductor transfer are best compared by measuring the abduction obtained at surgery and maintained over time. A follow-up of 141 modified adductor transfers with no prior or concomitant hip surgery demonstrated an averaged initial improvement in abduction of 43 degrees and maintenance of abduction with a low incidence of recurrence.

Coxa vara in childhood may be clinically classified as developmental, congenital, dysplastic, or traumatic and may occur at the physis or in the trochanteric or subtrochanteric area. Evaluation should include a search for a family history of similar deformity, a history of trauma or infection, and evidence of associated skeletal abnormality. Radiographs will illustrate whether the deformity is unilateral or bilateral and whether it occurs at or below the physis. With this information, coxa vara can be classified, and the optimal treatment can be selected. Surgical treatment of coxa vara in childhood is usually indicated when the disease is progressive, painful, unilateral, or associated with leg-length discrepancy.

Four patients with six knees with patellofemoral instability and severe trochlear dysplasia were treated with creation of a femoral sulcus. None of the six knees have had recurrent dislocations at 3- to 11-year follow-up. All patients had chromosomal abnormalities and limited motor demands. We recommend this procedure for children with patellar instability refractory to standard treatment methods who have severe trochlear dysplasia and limited motor demands.

Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of clinical and radiological features. The radiological features are more specific than the clinical ones. We have developed diagnostic radiological criteria based on information from our five cases and from six previously published ones.

We used a saline load test in 50 consecutive patients with periarticular lacerations suggestive of joint penetration. The surgeon had predicted on clinical grounds whether or not the laceration penetrated the joint. Joint penetration was demonstrated in 14 and was absent in 36. A comparison of the prediction and the test results showed that there were false-positive clinical results in 39% and false-negative in 43%. There were no complications from the use of the test. Our findings support the use of a saline load test in evaluating periarticular lacerations.

A retrospective review of 93 periprosthetic fractures and 102 periprosthetic fracture treatments showed that the type of prosthesis (cemented, ingrowth, Austin-Moore) and the presence of preexisting stress risers play a role in determining where the fractures occur. The site of fracture and the prefracture interface influence treatment of periprosthetic fractures. This study suggests that fractures associated with a loose interface, cemented or cementless, are best treated by removal of the prosthesis, reduction of the fracture, and insertion of a long stemmed prosthesis with additional fixation as needed. Treatment of a periprosthetic fracture associated with a stable prosthesis depends on the site of fracture. Fractures proximal to the tip of a fixed prosthesis usually can be treated nonoperatively or with limited internal fixation. Fractures at the tip of the prosthesis may be managed by revision or internal fixation, and fractures below the prosthesis can be managed operatively or nonoperatively.

Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.

Purpose: To evaluate the efficacy of both iliopsoas bursa imaging and therapeutic injections for determination of the cause of pain in patients with internal snapping hip syndrome., Materials and Methods: Twelve patients underwent iliopsoas bursa imaging. One patient underwent the procedure bilaterally and five underwent repeated studies for a total of 21 studies. Eight patients also received therapeutic injections after bursa imaging., Results: Abnormal motion of the iliopsoas musculotendinous unit that occurred synchronously with the snap was revealed in 15 of the 21 studies. Four studies revealed additional information that contributed to symptoms. Eight patients received therapeutic injections with relief of symptoms that ranged from 2 weeks to 2 years., Conclusion: Iliopsoas bursa imaging is a simple, rapid, and reproducible method with which abnormal iliopsoas tendon motion can be documented in patients with internal snapping hip syndrome and is also useful for diagnosis of other causes of atypical hip pain. Therapeutic injection into the iliopsoas bursa may delay or obviate surgery.

A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.

Skeletal dysplasias are the result of aberration in the growth and development of the skeleton. While they are individually rare, they are important in that they provide an insight into the mechanism of skeletal development. This article offers an approach to the diagnosis of skeletal dysplasias, rather than an exhaustive account of all the possible diagnoses. Dysplastic conditions are suspected on the basis of abnormal stature, disproportion, dysmorphism, or deformity. Diagnosis requires simple measurement of height and calculation of proportionality, combined with a complete physical examination, appropriate radiographs, an investigation of the family pedigree, and occasionally laboratory studies. An accurate diagnosis can usually be made on the basis of these data and a review of descriptive sources. A definitive diagnosis allows the treating physician to project the patient's ultimate height and to prognosticate about likely deformities and the risk of the recurrence of the condition in the family.

A patient with post-traumatic mechanical instability associated with a significant posterior acetabular deficiency in the presence of an otherwise good articular surface was treated with an allograft reconstruction. The short-term result was good; at 10-month follow-up there was full range of motion with no clinical evidence of instability. This procedure may be indicated in rare instances of post-traumatic mechanical instability where insufficiency of the posterior acetabular wall is felt to be a significant factor.

A series of 31 adult patients less than 42 years of age who were treated for avascular necrosis (AVN) following a healed femoral neck fracture were followed for an average of 14.6 years, and the results of their treatment were analyzed. The average age at fracture was 26.3 years (range: 12.2 to 41.4 years). The mechanism of injury was a motor vehicle accident in 18 and a fall in 13. Sixteen patients had multiple injuries. The average time from fracture to diagnosis of AVN was 19.1 months. The management of AVN included one or a combination of the following: non-weightbearing ambulation, decompression and bone grafting, electrical stimulation, femoral osteotomy, cup arthroplasty, resurface arthroplasty, arthrodesis, hemiarthroplasty, and total hip arthroplasty (THA). The average number of hip operations after initial fracture treatment was 2.9 per patient (range: 0-7). Current follow-up was possible in 97% (30 out of 31) of the patients. THA was performed either primarily or following other treatment in 23 patients at an average age of 31.9 years (range: 16.9-55.3 years). The survivorship of these THAs was 89% at five years and 49% at ten years. Revisions have been done for aseptic loosening of cemented components with the exception of two infections and one loose metal-on-metal press-fit THA. The results of this study indicate that total hip arthroplasty has a high long-term failure rate in this population, and alternate treatment should be considered in order to improve the long-term results.

The Council on Scientific Affairs of the California Medical Association presents the following inventory of items of progress in orthopedics. Each item, in the judgment of a panel of knowledgeable physicians, has recently become reasonably firmly established, both as to scientific fact and important clinical significance. The items are presented in simple epitome, and an authoritative reference, both to the item itself and to the subject as a whole, is generally given for those who may be unfamiliar with a particular item. The purpose is to assist busy practitioners, students, researchers, and scholars to stay abreast of these items of progress in orthopedics that have recently achieved a substantial degree of authoritative acceptance, whether in their own field of special interest or another. The items of progress listed below were selected by the Advisory Panel to the Section on Orthopedics of the California Medical Association, and the summaries were prepared under its direction.

A review of 218 patients with congenital vertebral anomalies demonstrates that 61% of patients had associated abnormalities affecting seven systems. The type of vertebral anomaly did not predict the location or type of associated abnormality. The site of vertebral anomaly did correlate with the occurrence of some associated diagnoses. The most common abnormalities associated with vertebral malformation were cranial nerve palsy, radial hypoplasia, club feet, dislocated hip, Sprengel's deformity, imperforate anus, hemifacial microsomia, and renal and cardiac anomalies. Comprehensive evaluation of patients with vertebral anomalies will be enhanced by knowledge of the type and frequency of associated anomalies.

Twenty-five patients with bladder exstrophy underwent pelvic osteotomy at or before initial bladder closure and anterior abdominal repair. Ten patients underwent bilateral iliac osteotomies before 1977. An alternative procedure consisting of bilateral superior pubic ramotomies has been used in 15 patients since 1977. In all patients, successful tension-free closure of the abdomen was achieved. Long-term follow-up of these two groups of patients shows no difference in the degree of pubic diastasis, which was asymptomatic. Posterior iliac osteotomy requires two additional incisions, longer operative time, and postoperative immobilization. We therefore recommend bilateral superior pubic ramotomy as an alternative procedure in initial reconstruction of the anterior abdomen in patients with bladder exstrophy.

The Resonant Frequency (RF) of the tibia is proportional to its stiffness. As a fractured tibia heals, its RF should increase. The RF was serially determined in 74 fractured tibias (205 examinations). These were subdivided by fracture location and fixation. Fast Fourier transform software generates the RF from data obtained with an instrumented impactor and accelerometer. The RF was normalized by expressing it as a ratio of the intact tibia. This ratio is called the tibial stiffness index (TSI). A 20 point tibial fracture score (TFS) quantitated the clinical and radiographic signs of healing. For each group the paired TSI and TFS were compared by regression analysis. Except for those fractures limited to the proximal fourth of the tibia, the TSI was found to correlate significantly (p = 0.0001) with the TFS. Fractures without fixation and those with unlocked, unreamed tibial nails showed very significant correlation of TSI with TFS (p = 0.0001). RF analysis was not useful in fractures with locked or reamed tibial nails. Examination of tibia with external fixation showed significant correlation (p = 0.02) of the TSI with the TFS.

Clinical and roentgenographic examination of the hip was performed in 114 patients with Down's syndrome to study range of motion, roentgenographic anatomy, and incidence of hip pathology. The study found increased external rotation of the hip. Roentgenographic studies demonstrate that, in comparison with a normal acetabulum, the acetabulum of a patient with Down's syndrome is deep, more horizontally placed, and has increased anteversion. The proximal femur of a patient with Down's syndrome has a normal neck-shaft angle and a moderate increase in anteversion. Of the patients, 7.9% had some hip abnormality, including dysplasia, dislocation, avascular necrosis, or slipped capital femoral epiphysis.

A syndrome of capillary hemangiomas of the lower limbs associated with decreased circumference and length of the limb is reported. Hypotrophy of the limb in this syndrome is slowly progressive and surgery is usually required to achieve limb-length equalization. This syndrome is to be distinguished from the more common Klippel-Trenaunay-Weber syndrome of skeletal hypertrophy associated with multiple hemangiomas.

Stress fracture of the anterior tibial diaphysis is rare and occurs mostly in leaping athletes. Thirty-six of these fractures in 35 patients have been reported in the literature. These are combined with 15 similar fractures in our experience to provide combined data on 51 anterior tibial stress fractures. Comparison of the various treatments utilized disclosed that there is a high risk of complete fracture if affected patients are allowed full activity, and that treatment by rest alone allowed only 40% to return to full activity even after symptomatic improvement. The treatment recommended for these patients is excision of the fissure, transverse drilling at the fissure site, and cancellous bone grafting of the defect. In those patients who suffer a complete fracture, open reduction and internal fixation is superior to closed treatment.

Seven patients underwent partial calcanectomy for chronic osteomyelitis. An average of 20 months followup demonstrated no recurrences, 80% excellent, and 20% good results. Gait assessment, range of motion, and manual motor testing demonstrated minimal functional deficits and full return to preoperative activities. Partial calcanectomy for chronic osteomyelitis of the calcaneus is a simple procedure with low morbidity, rapid convalescence, and good functional results. The high success rate and patient acceptance define it as a well tolerated alternative to more complex procedures.

Progressive ankle valgus in childhood requiring surgical correction is usually because of paralytic disease or conditions that produce a short distal fibula such as multiple exostoses or both. Surface epiphysiodesis of the distal medial tibial physis was used to correct valgus deformity in ten ankles in seven patients. This procedure has been found to be a simple and effective method of treatment. Measurement of the degree of valgus and calculation of the remaining growth of the distal tibial physis are recommended to determine whether this procedure will be effective. It is most often indicated in the presence of moderate valgus in children aged 11 to 14 years.

Three patients who experienced premature complete physeal closure of the ipsilateral limb following diaphyseal fractures are reported. The diagnosis was recognized because of unexpected progressive limb length discrepancy following fracture healing. The cause is unknown. This phenomenon should be recognized by those treating fractures in children.