Prediction of Clinically Significant Leg-Length Discrepancy in Congenital Disorders.

Leg-length discrepancy greater than 2 to 2.5 cm can potentially have an adverse effect on our walking and standing mechanisms and requires proper correction involving surgical treatment. However, for minor leg-length discrepancy in childhood, decision making for the indications for and timing of epiphysiodesis is difficult because of unpredictable final discrepancy. The purpose of this study was to analyze longitudinal changes of minor leg-length discrepancy in congenital disorders and to determine earlier predictive values for the clinically significant discrepancy. Twenty-one patients with congenital disorders who had minor leg-length discrepancy less than 2 cm at the first presentation were retrospectively evaluated. The patients were divided into 2 groups according to leg-length discrepancy at latest follow-up: the significant group (n=11) had 25 mm or more of leg-length discrepancy and the minor group (n=10) had less than 25 mm of leg-length discrepancy. The authors evaluated longitudinal changes of leg-length discrepancy within the first 10 years by mixed-effects regression model. All patients showed monotonically increasing leg-length discrepancy with age, except for 2 (neurofibromatosis type 1 and macrodactyly of the foot) who demonstrated fluctuating leg-length discrepancy. Mean annual rate of leg-length discrepancy change in the significant group was 2.1 mm across the first decade of life and was significantly larger than that in the minor group (difference in slope, 1.3 mm; P<.0001). In minor leg-length discrepancy associated with congenital disorders, the incidence of clinically significant leg-length discrepancy can be predictable by the annual rate of leg-length discrepancy change in the first decade of life.

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.

Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions. Although the etiologies of PFFD and FH remain unknown, there is a strong association between the two disorders. Associated congenital defects in the lower extremity are found in more than 50% of patients with PFFD, ipsilateral FH being the most common. FH also has a strong association with shortening and bowing of the tibia and with foot deformities such as absence of the lateral rays of the foot. Early diagnosis and radiologic classification of these abnormalities are imperative for appropriate management and surgical planning. Plain radiography remains the main diagnostic imaging modality for both PFFD and FH, and appropriate description of the osseous abnormalities seen on radiographs allows accurate classification, prognostic evaluation, and surgical planning. Minor malformations may commonly be misdiagnosed.

Internal lengthening device for congenital femoral deficiency and fibular hemimelia.

BACKGROUND: Patients with congenital limb shortening can present with joint instability, soft tissue contractures, and significant leg length discrepancy. Classically, lengthening is done with external fixation, which can result in scarring, pin site infection, loss of motion, and pain. We therefore developed an alternative to this approach, a new, controllable, internal lengthening device for patients with congenital limb shortening. QUESTIONS/PURPOSES: We evaluated this device in terms of (1) healing index, (2) complications, (3) accuracy of the device's external controller, and (4) adjacent-joint ROM. METHODS: Between January 2012 and May 2013, we treated 66 patients for congenital limb shortening, of whom 21 were treated using this device. During this period, general indications for using the device were patients with leg length discrepancies of 2 cm or more, with intramedullary canals able to withstand rods of at least 12.5-mm diameter and 230-mm length, without active infection in the affected bone, able to comply with the need for frequent lengthening, and without metal allergies or an implanted pacemaker. We included only those patients who had completed their course of treatment and were currently fully weightbearing, leaving 18 patients (21 bone segments) available for followup at a minimum of 6 months after limb lengthening (mean, 14 months; range, 6-22 months). Mean age was 19 years (range, 9-49 years). Sixteen femurs and five tibias were lengthened a mean of 4.4 cm (range, 2.1-6.5 cm). Mean distraction index was 1.0 mm/day (range, 0.5-1.8 mm/day). Healing index, complications, device accuracy, and ROM were recorded. To date, 10 of the 21 devices have been removed. This was typically done 12-24 months after insertion when the bone was solidly healed on all four cortices. RESULTS: Mean healing index was 0.91 months/cm (range, 0.2-2.0 months/cm). There were seven complications requiring an additional unplanned surgery, including one hip flexion contracture, three femurs with delayed healing, one tibia with delayed healing, one hip subluxation/dislocation, and one knee subluxation. The external controller was accurate as programmed and actual lengthening amounts were consistent. ROMs of the hip, knee, and ankle were essentially maintained. CONCLUSIONS: This device is completely internal, allowing for satisfactory joint motion during treatment in most patients. Lengthening was achieved in an accurate, controlled manner, and all patients reached their goal length. Complications remain a concern, as is the case with all approaches to this complex patient population. Both future comparative studies and longer-term followup are needed. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Instructions for Authors for a complete description of levels of evidence.

Limb lengthening and peripheral nerve function-factors associated with deterioration of conduction.

BACKGROUND: and purpose Limb lengthening is performed for a diverse range of orthopedic problems. A high rate of complications has been reported in these patients, which include motor and sensory loss as a result of nerve damage. We investigated the effect of limb lengthening on peripheral nerve function. PATIENTS AND METHODS: 36 patients underwent electrophysiological testing at 3 points: (1) preoperatively, (2) after application of external fixator/corticotomy but before lengthening, and (3) after lengthening. The limb-length discrepancy was due to a congenital etiology (n = 19), a growth disturbance (n = 9), or a traumatic etiology (n = 8). RESULTS: 2 of the traumatic etiology patients had significant changes evident on electrophysiological testing preoperatively. They both deteriorated further with lengthening. 7 of the 21 patients studied showed deterioration in nerve function after lengthening, but not postoperatively, indicating that this was due to the lengthening process and not to the surgical procedure. All of these patients had a congenital etiology for their leg-length discrepancy. INTERPRETATION: As detailed electrophysiological tests were carried out before surgery, after surgery but before lengthening, and finally after completion of lengthening, it was possible to distinguish between the effects of the operation and the effects of lengthening on nerve function. The results indicate that the etiology, site (femur or tibia), and nerve (common peroneal or tibial) had a bearing on the risk of nerve injury and that these factors had a far greater effect than the total amount of lengthening.

Long-term follow-up of Van Nes rotationplasty in patients with congenital proximal focal femoral deficiency.

Van Nes rotationplasty may be used for patients with congenital proximal focal femoral deficiency (PFFD). The lower limb is rotated to use the ankle and foot as a functional knee joint within a prosthesis. A small series of cases was investigated to determine the long-term outcome. At a mean of 21.5 years (11 to 45) after their rotationplasty, a total of 12 prosthetic patients completed the Short-Form (SF)-36, Faces Pain Scale-Revised, Harris hip score, Oswestry back pain score and Prosthetic Evaluation Questionnaires, as did 12 age- and gender-matched normal control participants. A physical examination and gait analysis, computerised dynamic posturography (CDP), and timed 'Up & Go' testing was also completed. Wilcoxon Signed rank test was used to compare each PFFD patient with a matched control participant with false discovery rate of 5%. There were no differences between the groups in overall health and well-being on the SF-36. Significant differences were seen in gait parameters in the PFFD group. Using CDP, the PFFD group had reduced symmetry in stance, and reduced end point and maximum excursions. Patients who had undergone Van Nes rotationplasty had a high level of function and quality of life at long-term follow-up, but presented with significant differences in gait and posture compared with the control group.

Long-term follow-up of congenital distal tibiofibular diastasis: a report of two female patients.

Congenital diastasis of the inferior tibiofibular joint is an extremely rare variant of dysplastic tibial anomaly, which is usually associated with significant shortening of the lower leg and ipsilateral foot deformity due to talus incarceration in the distal tibiofibular mortise. The purpose of this study was to present the long-term results of reconstructive treatment and the functional outcome after a follow-up of 11-16 years. The principles of extremity preservation and reconstruction with the Ilizarov frame have shown a stable ankle joint, a plantigrade foot, and fully independent outdoor ambulation in both patients at the final follow-up. We concluded that amputation should not be performed under this condition.

Hip dislocation during lengthening of congenital short femur.

Hip dislocation is a serious but rarely reported complication of femoral lengthening in congenital short femora. We report a retrospective series of three hip dislocations that occurred during lengthening, analyze the factors contributing to the dislocation, and discuss the treatment of this difficult problem. The average lengthening achieved was 9 cm. We found progressive acetabular dysplasia and decreasing center edge angle. Closed reduction failed. Treatment included soft tissue release, open reduction with femoral shortening, and acetabular procedures. At a mean follow-up of 4.4 years, two patients had a good modified Mckay score and a modified Severin score of 3. Excessive lengthening should be avoided.

Distal focal femoral deficiency.

This report represents an interesting case of a rare distal focal femoral deficiency with a complication of hip dislocation. The deformity at the distal femur was erroneously given an initial diagnosis of proximal focal femoral deficiency, and we believe that other similar patients have been given this incorrect diagnosis. Additional reports of such patients will allow further identification of associated pathology. This study describes the features of distal focal femoral deficiency, potential orthopaedic concerns, and proposes a classification scheme for this pathology.

Femoral lengthening over elastic stable intramedullary nailing in children using the monolateral external fixator.

The authors report preliminary results of femoral lengthening performed with monolateral external fixation over elastic stable intramedullary nailing in children. Seven femoral lengthenings were performed in six patients, at a mean age at surgery of 6.6 years (range 1.5-12 years). All lengthenings were performed due to limb length discrepancy (congenital hypoplasia in four patients, growth arrest secondary to neonatal infective osteoarthritis in one, type II sacral agenesis in one). In six cases the elastic nails realised a bipolar ascending construct, in one case a descending construct. Cases were reviewed at a mean time from removal of external fixator of 34.2 months (range 15-75 months). The mean lengthening obtained was 4.8 cm (range 3.8-6.0 cm). Mean consolidation index was 42.9 days/cm. No case of axial deviation requiring surgery and no case of deep infection were recorded. No case of fracture of the regenerate occurred after removal of the external fixator. There were two premature consolidations requiring mobilisation under general anaesthesia, and a case of failure of consolidation requiring surgery. The technique reported provides indisputable biomechanical advantages, particularly increasing stability at the site of osteotomy. The characteristics of implants make this method ideal for lengthenings in children.

Lengthening of the congenital short femur using the Ilizarov technique: a single-surgeon series.

We present a retrospective review of a single-surgeon series of 30 consecutive lengthenings in 27 patients with congenital short femur using the Ilizarov technique performed between 1994 and 2005. The mean increase in length was 5.8 cm/18.65% (3.3 to 10.4, 9.7% to 48.8%), with a mean time in the frame of 223 days (75 to 363). By changing from a distal to a proximal osteotomy for lengthening, the mean range of knee movement was significantly increased from 98.1 degrees to 124.2 degrees (p = 0.041) and there was a trend towards a reduced requirement for quadricepsplasty, although this was not statistically significant (p = 0.07). The overall incidence of regenerate deformation or fracture requiring open reduction and internal fixation was similar in the distal and proximal osteotomy groups (56.7% and 53.8%, respectively). However, in the proximal osteotomy group, pre-placement of a Rush nail reduced this rate from 100% without a nail to 0% with a nail (p < 0.001). When comparing a distal osteotomy with a proximal one over a Rush nail for lengthening, there was a significant decrease in fracture rate from 58.8% to 0% (p = 0.043). We recommend that in this group of patients lengthening of the femur with an Ilizarov construct be carried out through a proximal osteotomy over a Rush nail. Lengthening should also be limited to a maximum of 6 cm during one treatment, or 20% of the original length of the femur, in order to reduce the risk of complications.

Parkes-Weber syndrome associated with a congenital short femur of the affected limb.

The association of capillary malformation, high-flow arteriovenous fistulas, and limb hypertrophy corresponds to Parkes-Weber syndrome. Most of cases are sporadic, although a first familial case has been recently reported. We report the first observation of a Parkes-Weber vascular anomaly with an underlying congenital short femur.

Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.

A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral extracutaneous defects include cervical ribs, polydactyly, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and optic glioma. The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated.

Bisphosphonate rescue in distraction osteogenesis: a case series.

Distraction osteogenesis is a powerful stimulus for new bone (and tissue) generation (anabolism). Biomechanical stimulation by distraction of the regenerate region results in a high rate of tissue and bone production. However, catabolism (bone resorption) can also occur, the process potentially accentuated in a stress-shielded environment of an external fixator. Regenerate insufficiency can result in regenerate bending or fracture after frame removal. Experimental evidence has demonstrated that bisphosphonates may mediate improved local limb bone mineral density (BMD) and regenerate strength in animal models. Seven patients who had undergone limb lengthening using an Ilizarov device were found to have regenerate insufficiency. Poor regenerate quality led to consideration for intervention. With informed consent, patients received a therapeutic regime of intravenous pamidronate (n = 3) or zoledronic acid (n = 4).The mean age was 13.8 years (SD, +/-3.6 years), with a minimum follow-up period of 4 months after fixator removal. The sites of regenerate insufficiency were the proximal tibia (n = 6) and the distal femur (n = 1). The mean time interval in the fixator before bisphosphonate treatment was 170 days (range, 124-252 days), with an average length increase of 4.8 cm (SD, +/-1.1 cm). At time of intravenous bisphosphonate treatment, dual-energy x-ray absorptiometry measurements demonstrated a reduced BMD (mean, 62.1%; SD, +/-12.6%) in the bone adjacent to the lengthening site of the nonoperated side. Mean healing index was high at 79.6 days/cm (range, 64.4-108.0 days/cm), reflecting the observed regenerate insufficiency. No significant systemic complications were encountered. Six of the patient's fixators were removed without requirement for other intervention, demonstrating a rapid and sustained improvement in local BMD, increasing to a mean of 85.6% (SD, +/-13.3%) of the healthy side. One patient did not respond and subsequently healed after percutaneous osteogenic protein 1 (bone morphogenetic protein 7) and bone marrow injection. Most failed regenerate cases maintain some underlying anabolic activity and can be treated successfully with bisphosphonate therapy, which reduces catabolism. Only 1 case required percutaneous administration of an anabolic therapy to achieve union. These minimally invasive approaches may lessen the need for surgery in a group where significant surgical reintervention could otherwise be required.

Knee arthritis in congenital short femur after Wagner lengthening.

Knee anomalies are common in patients with congenital short femurs who require lengthening to correct limb-length discrepancies. We retrospectively reviewed the incidence of knee arthritis and the factors influencing its occurrence after femoral lengthening using the Wagner method. Twenty-three patients with congenital short femurs treated with the Wagner method were followed up until skeletal maturity (minimum, 5 years postoperatively). The mean age of the patients at lengthening was 10.8 years (range, 8.4-14.5 years). The mean leg-length discrepancy at the time of surgery was 9.7 cm (femur, 7.6 +/- 3.7 cm; tibia, 2.1 +/- 1.8 cm). Femoral lengthening (mean, 7.9 cm) was performed in 17 patients. Femoral lengthening and tibial lengthening were performed simultaneously in six patents (mean, 11.8 cm). The mean age of the patients at the last followup was 16.8 years (range, 14-20.3 years). Eighteen patients had arthritis at followup. Nine patients had severe arthritis develop, seven of whom had knee instability preoperatively and temporary subluxation during the lengthening procedure. Seventy-eight percent of patients had arthritis develop in the knee after lower-limb lengthening using the Wagner method for congenital short femurs. Patients who had an unstable knee before surgery had temporary knee subluxation develop during the lengthening procedure, and patients who had simultaneous lengthening of the femur and tibia had a high association with degenerative arthritis changes in the knee.

Dysplasia of the cruciate ligaments: radiographic assessment and classification.

BACKGROUND: A common pathologic finding in the knee associated with congenital longitudinal deformity is aplasia of one or both cruciate ligaments. We performed a radiographic analysis to assess the changes in the femoral intercondylar notch and the tibial eminence in relation to the status of the cruciate ligaments. METHODS: Thirty-four knees in thirty-one patients with longitudinal congenital deficiency of the lower limb were evaluated. The cruciate ligaments and the associated abnormalities of the distal aspect of the femur and the proximal aspect of the tibia were evaluated with use of magnetic resonance imaging and a tunnel view radiograph. RESULTS: We differentiated three main types of dysplasia of the cruciate ligaments with typical associated changes. In type I, partial closure of the femoral intercondylar notch and hypoplasia of the tibial eminence are observed and the anterior cruciate ligament is hypoplastic or aplastic. In type II, these findings are accentuated and there is additional hypoplasia of the posterior cruciate ligament. In type III, the femoral intercondylar notch and the tibial eminence are completely absent and there is aplasia of both cruciate ligaments. CONCLUSIONS: We delineated three types of congenital deficiency of the cruciate ligaments and found corresponding morphologic changes of the femoral notch and the tibial eminence, which can be observed on tunnel view radiographs. Thus, the diagnosis and differentiation between aplasia of one or both cruciate ligaments and between congenital and trauma-induced absence of the cruciate ligaments may be made by interpreting plain radiographs.

[A strategy of rehabilitation in children with proximal femoral focal deficiency treated with modyfied Van Nes rotationplasty]. / Rehabilitacja dzieci z wrodzonym brakiem blizszego konca kosci udowej, leczonych zmodyfikowana plastyka rotacyjna wedlug Van Nesa.

We present a strategy of a complex rehabilitation in children with pffd before and after Van Nes rotationplasty. The rehabilitation proces is divided into tree stages: preoperative, in which general exercises, swimming etc. are used to improve patient's general phisical condition with special care to improve ankle range of motion and to strenghten the muscles: gastrocnemius, quadriceps femoris and glutei on the afected side. Second stage begines whith the cast removal. Gentle ankle manipulations, passive and in about a 0 days after the cast removal, active ankle movements are excercised. The last stage begins when individual prosthesis is made and the patient begins to learn how to stand and to walk with proper active "knee" flexion and extension and with proper foot progression angle, initialy with cruthes on flat surface, and finnally, about 3 months after the surgery without cruthes, also on stairs. A good cooperation with the child's parents and with the child itself is necessary to have a success in the rehabilitation process.

[Van Nes rotationplasty in two patients with congenital femoral deficiency]. / Dogustan femur yetersizliginde uygulanan Van Nes rotasyonplastisi: Iki olgu sunumu.

Congenital femoral deficiencies have a wide spectrum ranging from simple hypoplasia to complete femoral aplasia. They are often associated with congenital shortening of the tibia and fibular hemimelia. This anomaly has no known genetic transmission. There are two main treatment modalities for congenital femoral deficiency: prosthetic replacement surgery (Syme amputation or Van Nes rotationplasty followed by prosthetic fitting) and lengthening reconstruction surgery. In this report, we presented two patients (male, 26 years; girl, 7 years) with congenital femoral deficiency treated with Van Nes rotationplasty. In both cases, the treatment took 1.5 months, after which the patients were mobilized with prosthesis. No complications were encountered within a follow-up period of five years and 1.5 years, respectively. Rotationplasty enables an improved functional gait in patients with a very short femoral segment or Paley type 3 femoral deficiency.

[Posteromedial bowing of the lower leg and neuroblastoma with possible neurofibromatosis type I: a case report and literature review]. / Posteromediale Unterschenkelverbiegung und Neuroblastom bei Verdacht auf Neurofibromatose Typ I: Kasuistik und Literaturübersicht.

BACKGROUND: The posteromedial bowing of the tibia is a rare condition that is not yet known to be related to neurofibromatosis. The case of a three month-old boy with the tentative diagnosis of neurofibromatosis is described. He developed paraplegia due to an abdominal neuroblastoma at the age of 9 months. This led us to a review of the literature. METHOD: 122 cases of posteromedial bowing of the tibia in 20 publications of the years 1949 - 2000 were analysed under special respect to gender, side of affection, shortening of the lower leg, treatment and possible cause. RESULTS: The posteromedial bowing of the lower leg seems to affect more boys as well as the left side. As far as described in all but one case it was the first delivery. Regularly, a limb shortening and pes calcaneovalgus is to be found. 99 children were treated conservatively, 21 got an operation of the affected side. In 19 performed osteotomies no pseudarthrosis occurred. One case of a fracture due to an adequate trauma without healing problems is described.

Femoral lengthening over a humeral intramedullary nail in preadolescent children.

BACKGROUND: Femoral lengthening over an intramedullary nail has been described in adults. A technique of femoral lengthening over a humeral intramedullary nail in children is described, and the results and complications are presented. METHODS: Nine preadolescent patients (average age, nine years and ten months) with femoral length discrepancy were treated with femoral lengthening over a humeral intramedullary nail. After nail insertion, a monolateral external fixator was placed with half-pins either anterior or posterior to the intramedullary nail, and lengthening was performed through a proximal osteotomy. RESULTS: The femora were lengthened a mean of 6.1 cm (range, 5.0 to 8.0 cm), 19.5% (range, 15.9% to 26.2%) of the preoperative femoral length. Patients had a mean lengthening index of 12.2 days/cm of length (range, 9.5 to 16.9 days/cm of length). Five complications including osteomyelitis, failure of the distal interlocking site, and femoral fracture at the distal end of the nail occurred in four patients; four of the complications led to surgical intervention. No case of proximal femoral valgus secondary to nailing through the greater trochanter had developed by the time of final follow-up. All patients were followed for a minimum of two years postoperatively, with a mean of 128 weeks (range, 111 to 161 weeks). CONCLUSIONS: The technique is effective but has a high rate of complications, including osteomyelitis, which developed in two of the nine patients. No avascular necrosis or proximal femoral valgus was noted.