The use of intramedullary implants in Osteogenesis Imperfecta (OI) patients to treat and prevent fractures, non-unions and limb deformities has been well established. To serve this purpose different implants are available from non-telescoping rods such as Rush rods and Kirschner wires, to telescoping rods such as the Dubow-Bailey rod, the Sheffield rod and the Fassier-Duval (FD) rod (Pega Medical, Laval, Quebec, Canada). The purpose of this study is to report on the long-term results of the femoral Fassier-Duval rod. A retrospective chart review of all patients with OI who underwent a femoral intramedullary Fassier-Duval rodding between 2002 and 2017 and followed for an average of 12 years at the Shriner's Hospital, Montreal, Quebec, Canada was performed. A total of 81 patients underwent femoral FD rodding between 2002 and 2017. Twenty-seven children undergoing 83 procedures had completed a minimum 10-year follow up with complete charts and these were included here. The average follow up time was 12 years (10–15 years). Fifty procedures were initial rodding surgeries and 30 (36.1%) were revision surgeries. A total of 69 complications were reported in the medical record and confirmed on x-ray. The 3 most common complications were a bent rod 24 (34.8%), femur fracture 16 (23.2%) and loss of telescoping in 12 (17.4%) of patients. The 3 most common cause of revision were femur fracture 16 (53.3%), broken rod 5 (16.7%) and coxa vara in 3 (10%) of patients. The average time from initial surgery to the first revision was 5.9 years. Long term performance of femoral FD rodding shows that despite improved functioning with these rods, certain complications are to be expected, most commonly a risk of femoral fracture requiring revision surgery.
The aim was to assess the long-term impact of humeral and forearm rodding on functional ability, grip strength, joint range of motion and angular deformity in children with osteogenesis imperfecta. A retrospective chart review was conducted on 57 children with osteogenesis imperfecta who underwent humeral rodding or forearm rodding at our institution between 1996 and 2013. Functional ability was assessed using the self-care and mobility domains of the Pediatric Evaluation and Disability Inventory (PEDI). Grip strength was measured using a dynamometer and joint range of motion with a goniometer. Deformity was measured on radiographs of the humerus or forearm. Outcomes were assessed pre-operatively and every year post-operatively. Differences between pre-operative and 1-year post-operative outcomes were compared using paired T-tests. In 44 patients with a minimum of 2 years follow-up, outcome measures at 1-year post-surgery were compared to those at the latest clinic visit (mean follow-up = 8.0 years). Humeral and forearm rodding resulted in a significant improvement in PEDI self-care score (mean change =5.75, p=0.028 for the humerus, mean change = 6.77, p=0.0017 for the forearm) and mobility score (mean change =3.59, p=0.008 for the humerus, mean change =7.21, p=0.020 for the forearm) at 1 year post-surgery. Grip strength improved following forearm rodding (mean change = +6.13N, p=0.015) but not humeral rodding. Joint range of movement improved following humeral rodding but not forearm rodding. There was a significant improvement in radiographic angular deformity of the forearm and humerus following surgery (p<0.0001). Over 80% of improvements were maintained in the long-term. Humeral and forearm rodding in children with osteogenesis imperfecta leads to long-term improvement in functional ability and angular deformity.
In osteogenesis imperfecta (OI) because of bone fragility, deformities in load bearing regions of the body such as femoral neck and proximal femur are expected. The purpose of this study was to determine the prevalence and clinical presentation of coxa vara in two hundred and ninety-two patients with different types of OI. More than half of the patients were OI type III (55%) and the highest prevalence of coxa vara was seen in OI type VI (44,5%). The children suffering from coxa vara had also a significant limitation of range of motion in their hips. The charts and x-rays of one hundred and fifty-four girls and one hundred and thirty-eight boys with OI were reviewed. The patients were classified according to the Sillence classification modified by Glorieux: eighty-seven Type I, sixty-nine Type IV, sixty-two Type III, eighteen Type V, nine type VI, four types VII, and forty-three unclassified. The mean age was nine, four years (0, 3–23, 3). Twenty-nine patients (9, 9%) had coxa vara (twenty-three left, twenty right). 55% of them were type III, 17% type IV, 13, 8% type VI and three, 4% each of types I, V, VII and unclassified OI. The prevalence of coxa vara was 1% in type I, 5,5% in type V, 7 % in type IV, 25% in type VII , 26% in type III and 44,5% in type VI (p<
0,001 for difference between types I, III and IV). Coxa vara was less frequent in patients with blue sclera (p=0,007). The mean neck-shaft angle was 99° (80°–110°) and the mean Hilgenreiner-epiphyseal angle was 68° (40°–90°). Twenty-five of coxa vara patients (thirty-six hips) had femoral rodding before diagnosis and six hips (all type III) had no history of rodding; however, 26 % of five hundred and thirty-one hips without coxa vara, had previous history of femoral rodding (p=0,004). Abduction, extension and internal rotation were restricted in the hips with deformity. The abductors and extensors of the hips were weak in some that resulted in limping and Trendelenburg gait. Special attention including clinical and radiological follow-up should be given to type III and VI patients particularly in the presence of previous femoral rodding.
The charts and X-rays of one hundred and fifty-nine consecutive children with Osteogenesis imperfecta (OI) were reviewed to evaluate the functional outcome of OI patients with upper limb deformities. The patients were classified according to Sillence classification modified by Glorieux (Type I: 51, Type III: 33, Type IV: 54 and Type V: 21). The functional outcome was measured using Pediatric Evaluation of Disability Inventory (PEDI) based on self care and mobility scores, and results were compared between the patients with upper limb deformities and the ones without upper limb deformities. There was significant negative correlation between the functional outcome and the total deformity angle. Osteogenesis imperfecta is a genetic disorder of bone fragility. There are also some angular deformities of upper and lower limbs secondary to fracture and abnormal structure of bones in many OI patients depending on the severity of their condition. Corrective surgeries to the lower extremities are established interventions and used extensively but surgical correction of upper limb deformities is less frequent. The purpose of this study was to measure the severity of upper limb deformities in children with OI and the child’s functional level in order to answer the question: “Do upper limb deformities significantly affect function and therefore require surgical intervention?” Upper limb deformities were measured and classified using AP and lateral Xrays of the arms and forearms. The site and direction of deformities were recorded. Total deformity angle was calculated as the sum of right and left arm and forearm deformity angles. Upper limb deformities were classified into four groups according to the severity of deformity angles. The mean self care scores of PEDI were significantly low only in the group with severe and bilateral deformities but mobility scores were dramatically decreased in both the moderate and severe deformity groups. Deformities of the upper limbs in OI limit not only mobility but also self care functions. Therefore they require more attention and it may be necessary to broaden the indications for surgery.
We reviewed retrospectively 22 patients (23 limb segments) with fibular hemimelia treated by amputation or limb lengthening to evaluate these methods of treatment. There were 12 boys and 10 girls, all with associated anomalies in the lower limbs. Twelve patients (13 limb segments) had early amputation and prosthetic fitting and ten had tibial lengthening using the Ilizarov technique. At the latest follow-up, the twelve patients who had amputation were functioning well and had few complications. The ten patients who had lengthening had suffered numerous complications, and all had needed either further corrective surgery or to wear braces or shoe-raises. Two of the ten lengthened limbs required late amputation for poor function or cosmesis. There were fewer hospital admissions, clinic visits, and periods of absence from school in the amputation group. Our findings suggest that amputation is a more effective method of management than limb-lengthening in severe fibular hemimelia. The Ilizarov method is an attractive alternative for selected patients, but its exact role is not yet established. One problem is that families often have unrealistic expectations of the surgical and prosthetic technology available and may refuse amputation when this has been recommended.
