Long-term follow-up in osteogenesis imperfecta type VI.

This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies. INTRODUCTION: Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations. METHODS: This study includes a retrospective chart review of 13 individuals with OI type VI. RESULTS: In the absence of therapy, lumbar spine areal bone mineral density (BMD) did not increase during childhood and longitudinal growth seemed to stall after the age of 6 to 8 years. The phenotype was similar between individuals with different types of SERPINF1 mutations. Intravenous bisphosphonate treatment was associated with an increase in lumbar spine areal BMD and some reshaping of compressed vertebral bodies. Patients who had started bisphosphonate treatment early (before the age of 6 years) were taller than patients who had received bisphosphonate treatment later during their growing years. Lower extremity fractures were frequent despite bisphosphonate treatment and scoliosis was present in all patients who had reached the final height. Most patients had restricted mobility. In four patients, intravenous bisphosphonate treatment was eventually substituted by subcutaneous injections of denosumab, without clear changes in the clinical picture. CONCLUSIONS: Patients with OI type VI who received intravenous bisphosphonate treatment during growth had an increase in lumbar spine areal BMD, a higher final height z-score, and presented some reshaping of vertebral bodies. More effective treatment modalities are clearly required in OI type VI.

[Longitudinal epiphyseal bracket of the first metatarsus (delta bone)]. / Pont épiphysaire longitudinal déformant du premier métatarsien ou "métatarse delta"

PURPOSE OF THE STUDY: The longitudinal epiphyseal bracket (LEB) or delta bone is a rare congenital ossification anomaly generally observed in finger or toe phalanges but occasionally in the metatarsus or metacarpus. LEB is initially composed of cartilage forming a bracket linking the proximal and distal epiphyses and causing defective growth of the primary ossification focus. Changes in bone growth secondary to the presence of a LEB would be the cause the angle malformations and length discrepancies observed in these subjects. This raises significant therapeutic problems and repeated surgical interventions when the diagnosis is not established early enough. The clinical presentation of LEB of the first metatarsus is similar to metatarsus adductus or hallux varus primus. The particular aspect on the plain x-ray enables the diagnosis. MATERIAL AND METHODS: We operated five feet presenting LEB of the first metatarsus in three children aged on average 23 months (range 8 months to 3 years 10 months). The cartilage bracket was removed, followed by metatarso-phalangeal centromedullary pinning. We studied the course of the angle and length deformities and report outcome at mean follow-up of 4 years 11 months (range 2 years to 3 years 10 months). RESULTS: Clinical improvement with correction of the angle deformities was observed in all feet. The length discrepancies did not resolve completely. The degree of correction depended on the age at the time of surgery. DISCUSSION: In light of the results obtained in this series and considering the negative prognosis of late surgical management, it would be advisable to obtain a plain x-ray of the foot in all children presenting metatarsus adductus associated with a short first ray.

Inflammatory arthritis in children with osteochondrodysplasias.

Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Patients with these diseases commonly develop an early degenerative arthritis or osteoarthritis. Occasional observations of inflammatory arthritis have been made in this population but such observations are based on clinical grounds alone without confirmatory imaging studies. Four patients followed up in a paediatric rheumatology clinic with three different skeletal dysplasias, who had both clinical and radiological evidence of an inflammatory arthritis and coexistent degenerative arthritis, are described.

Type V osteogenesis imperfecta: a new form of brittle bone disease.

Osteogenesis imperfecta (OI) is commonly subdivided into four clinical types. Among these, OI type IV clearly represents a heterogeneous group of disorders. Here we describe 7 OI patients (3 girls), who would typically be classified as having OI type IV but who can be distinguished from other type IV patients. We propose to call this disease entity OI type V. These children had a history of moderate to severe increased fragility of long bones and vertebral bodies. Four patients had experienced at least one episode of hyperplastic callus formation. The family history was positive for OI in 3 patients, with an autosomal dominant pattern of inheritance. All type V patients had limitations in the range of pronation/supination in one or both forearms, associated with a radiologically apparent calcification of the interosseous membrane. Three patients had anterior dislocation of the radial head. A radiodense metaphyseal band immediately adjacent to the growth plate was a constant feature in growing patients. Lumbar spine bone mineral density was low and similar to age-matched patients with OI type IV. None of the type V patients presented blue sclerae or dentinogenesis imperfecta, but ligamentous laxity was similar to that in patients with OI type IV. Levels of biochemical markers of bone metabolism generally were within the reference range, but serum alkaline phosphatase and urinary collagen type I N-telopeptide excretion increased markedly during periods of active hyperplastic callus formation. Qualitative histology of iliac biopsy specimens showed that lamellae were arranged in an irregular fashion or had a meshlike appearance. Quantitative histomorphometry revealed decreased amounts of cortical and cancellous bone, like in OI type IV. However, in contrast to OI type IV, parameters that reflect remodeling activation on cancellous bone were mostly normal in OI type V, while parameters reflecting bone formation processes in individual remodeling sites were clearly decreased. Mutation screening of the coding regions and exon/intron boundaries of both collagen type I genes did not reveal any mutations affecting glycine codons or splice sites. In conclusion, OI type V is a new form of autosomal dominant OI, which does not appear to be associated with collagen type I mutations. The genetic defect underlying this disease remains to be elucidated.

Bone dysplasias: an introduction.

Although individual bone dysplasias are rare, as a group they are relatively common and have a significant effect on morbidity and mortality at all ages. In this brief introduction, radiologic classification, diagnosis and differential diagnosis are given. The radiologic diagnosis is emphasized, since distinction among the various bone dysplasias is based largely on radiographic findings. Prenatal diagnosis relies heavily on high-resolution real-time ultrasonography of the fetus. Precise antenatal ultrasonographic diagnosis of a bone dysplasia may be very difficult; however, accurate differentiation of a lethal versus a nonlethal anomaly is relatively easy. There has been a recent explosion of knowledge about the genetic basis of skeletal dysplasias. Collagen gene mutations have been found to be responsible for osteogenesis imperfecta and many other bone dysplasias. The locations of the genes implicated in achondroplasia and some other chondrodysplasias are now known. Histologic analysis of the growth plate may also provide specific diagnostic features in achondroplasia and other bone dysplasias. A team approach is mandatory for the diagnosis and management of this fascinating and challenging group of diseases.

Complications of limb-lengthening in children who have an underlying bone disorder.

We retrospectively reviewed the results, particularly with regard to complications, of lengthening of long bones in eight children (nine limb segments) who had a limb-length discrepancy secondary to an underlying bone disorder (Group 1). The mean age of these patients was twelve years (range, six to sixteen years), the mean preoperative limb-length discrepancy was 6.0 centimeters (range, 2.7 to 8.8 centimeters), and the mean lengthening of the nine limb segments was 6.2 centimeters (range, 2.7 to 9.0 centimeters). Only two extremities were equalized. We compared the results in Group 1 with those of limb-lengthening in seven children (nine limb segments) who had a discrepancy secondary to post-traumatic growth arrest (Group 2) and seven children (seven limb segments) who had a discrepancy secondary to growth arrest following an infection in the bone (Group 3). All of the procedures were performed at our institution during the same time-period by the same surgeons. There were forty-one complications (twenty-five minor and sixteen major), with a mean of five complications per limb segment, in Group 1; twenty-six complications (twenty minor and six major), with a mean of three complications per limb segment, in Group 2; and twenty-two complications (fourteen minor and eight major), with a mean of three complications per limb segment, in Group 3. The results in Group 1 suggest that the Ilizarov technique for lengthening, although effective in restoring the length of the extremity, is associated with a higher rate of complications in patients who have a discrepancy due to an underlying bone disorder than in those who have a discrepancy due to growth arrest. Therefore, caution should be exercised before a lengthening procedure is recommended for a patient who has an underlying bone disorder.

Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the Ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report.

Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.

Management of fibular hemimelia: amputation or limb lengthening.

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.

[Herniated disk and congenital spinal stenosis in the adolescent]. / Hernie discale et sténose congénitale du canal lombaire chez l'adolescent.

PURPOSE OF THE STUDY: The goal of this study was to demonstrate the relationship between herniated discs and congenital spinal stenosis. A retrospective study was conducted on patients seen in our center over a five year period. MATERIAL AND METHODS: The CT-Scan evaluation was essential for the measurement of the diameter of the spinal canal. Data were compared with the values obtained in ten normal subjects. RESULTS: Twelve complete charts of adolescents with herniated discs were reviewed and in all cases a spinal stenosis was established. The mean diameter of the canal was 8.1 mm for the patient group compared with 18.1 mm for the control group. CONCLUSION: The relationship of herniated discs and spinal stenosis found here is greater than the one reported in the literature. This relationship accounts for the importance of neurological (9/12 patients) involvement found in our series in comparison with adults. This also explains the failure of conservative treatment.

The value of computed tomography for the diagnosis of recurrent patellar subluxation in adolescents.

OBJECTIVE: To determine if computed tomography of the patellofemoral joint has any advantage over standard radiologic techniques in the evaluation of recurrent patellar subluxation. DESIGN: A case series. SETTING: A tertiary children's hospital out-patient clinic. PARTICIPANTS: Forty consecutive adolescents with a clinical diagnosis of recurrent patellar subluxation (study group) and 14 volunteers with normal knees (control group). INTERVENTIONS: A standardized radiologic protocol, including axial views of the patella at 30 degrees of knee flexion, with and without external torsion of the tibia, and computed tomography (CT) of the patella at 15 degrees of knee flexion. MAIN OUTCOME MEASURES: The lateral patellofemoral angle on the axial views and on the CT scan and patellar centralization on the CT scan. RESULTS: In the control group, no radiologic evidence of recurrent patellar subluxation was found. In the study group, an abnormal lateral patellofemoral angle was found in 25% of axial views; this rate increased to 42% with external rotation and 86% on the CT scan. Patellar centralization was abnormal in 79% of cases. CONCLUSIONS: CT of the patellofemoral joint is more sensitive than standard radiographs for the diagnosis of recurrent patellar subluxation. The use of CT is recommended when standard radiographs appear normal.

Renal osteodystrophy in children: correlation between aetiology of the renal disease and the frequency of bone and articular lesions.

In a retrospective study of 70 patients with chronic renal failure, 66% were found to have manifestations of renal osteodystrophy. Children with either hereditary or congenital renal diseases were more prone to develop bone lesions than patients with acquired renal diseases.

[A case of osteoid osteoma of the femoral head epiphysis in a 9-year-old child]. / Un cas d'ostéome ostéoïde de l'épiphyse de la tête fémorale chez un enfant de 9 ans.

The authors describe an osteoid osteoma of the upper femoral epiphysis in a child of nine years. Healing was obtained after trans-articular curettage through an anterior approach. The authors have found no other similar case in the literature.