A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation.

Background: Trendelenburg's gait can be observed in Legg-Calvé-Perthes disease, antalgic gait observed in osteoarthropathy and waddling gait is usually seen in genu varum and circumduction gait in patients with genu valgum. Disabling pain was a prime manifestation in slipped capital femoral epiphysis (SCFE). Limited joint range of motion with an inability to bear full weight on an affected extremity with swaying and wide-based gait is seen in patients with malalignment of the lower limbs.

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.

Rationale: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered.

Acetabular roof stress fracture: a rare cause of hip pain in children.

Stress fracture of acetabular roof is an unusual cause of hip pain. It is considered as an underdiagnosed entity. People who are more susceptible to experience this fracture are athletes, soldiers and dancers.

Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

Background: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant.

Methods: Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects.

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset.

Materials And Methods: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study.

The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

Background: The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another.

Methods: In a series of 11 patients (eight girls and three boys, aged 0 - 16 years), variable clinical presentations were the landmarks of these patients. At birth, all of our patients manifested short great toes in a valgus position.

Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.

Objective: Developmental abnormalities of the appendicular skeleton are among the most common and easily identified birth defects. The aim of this report was to describe the phenotypic characterization of several patients with thrombocytopenia-absent radius (TAR) syndrome and the orthopaedic interventions performed on them. TAR syndrome is inherited in an autosomal recessive manner and results from compound heterozygosity of RBM8A mutations.

Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not associated with webbing (pterygia). Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation).

Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

We describe a male patient, who was seen for the first time at the age of 8 years because of short trunk dwarfism. Spine radiographs showed platyspondyly with irregular areas of increased and decreased mineralization (irregular spotted appearance within lytic lesions located along the posterior vertebral bodies of the entire spine). Skeletal survey showed no enchondromatous lesions of the short/long tubular bones.

[Epidemiology of acute hematogenous osteomyelitis in children: a prospective study over a 32 months period].

Aim: To determine the demographic, clinical, biological and bacteriological profile of acute community acquired hematogenous osteomyelitis (AHO) in children.

Methods: Prospective study including children admitted for AHO. We noted the demographic parameters of patients and the clinical, biological and radiological characteristics of the infection.

Progressive correction of severe spinal deformities with halo-gravity traction.

Treatment of rigid and severe spinal deformities is challenging and risky. Preoperative halo-gravity traction can be used to progressively reduce the deformity before spinal fusion. The aim of this study was to evaluate the effectiveness of halo-gravity traction for the correction of severe spinal deformities.

Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.

Facial dysmorphism associated with distinctive spine abnormalities has been encountered in a girl and her mother. A three-dimensional reformatted spinal computed tomography scan showed a combination of distinctive abnormalities such as failure of anterior formation of the vertebral bodies, malsegmentation, and Forestier disease. Mutations were not found in the GDF6 gene.

Childhood soft tissue chondroma. Two cases report.

Background: Soft tissue chondroma is a rare benign tumour, which is generally seen in adult. It consists of islands of heterotopic cartilaginous tissue and most localised on the hands and the feet. The hypothesis that microtrauma is involved in the aetiology of this condition has yet to find any factual support.

Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).

We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths.

Magnetic resonance evaluation of acetabular residual dysplasia in developmental dysplasia of the hip: a preliminary study of 27 patients.

Thirty-one hips in 27 young girls, treated for developmental dysplasia of the hip in the authors' institute since 2003, showed persistent radiographic evidence of residual acetabular dysplasia. These hips were registered as candidates for pelvic osteotomy. A prospective study was conducted and these hips were evaluated by magnetic resonance imaging (MRI); the average age of the patients was 5 years.

Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome.

Distinctive tomographic features of atlantoaxial dislocation have been encountered in a child with du Pan syndrome. Three-dimensional computed tomography scan showed agenesis of the odontoid process associated with significant hypoplasia of the left lateral mass of the odontoid. Bidirectional fluorescent DNA sequencing have been used to identify mutations in the complete coding region (exon 1-2) of the cartilage-derived morphogenic protein 1 gene.

Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association.

Recent onset of head mobility limitations associated with significant stiffness along the vertebral column were the predominating symptomatology in a girl with MURCS association. Occipitoatlantoaxial junction malformation complex and vertebral hyperostosis have been identified. Three-dimensional computerized tomography (3-DCT) scan showed assimilation of the anterior arch of the atlas causing basilar invagination.

Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.

We report two siblings aged 11 and 7 years, respectively, who presented with the clinical and radiographic features of opsismodysplasia (non-lethal type). 3D computed tomography scans of the craniocervical region revealed a split atlas and os odontoideum in both siblings. To the best of our knowledge, this is the first clinical report detailing craniocervical malformations in two siblings with opsismodysplasia.

Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning.

Study Design: A study on a pair of male sibs to reach for the etiological understanding of unusual skull base/spine maldevelopment.

Objective: Previously, radiographs alone were used to formulate this diagnosis. Here, three-dimensional computed tomography (3D CT) studies further clarified the typical diagnostic findings associated with spondylocostal dysostosis (SCD).

Early results of the Ponseti method using the Steenbek foot abduction brace: a prospective study of 95 feet.

The purpose of this study is to evaluate the early results of the Ponseti method and the effectiveness of the Steenbek foot abduction brace. A total of 74 patients with 110 idiopathic clubfeet were included in this prospective study. The feet were evaluated according to the Dimeglio-Bensahel classification, the Catteral-Pirani classification and the functional classification of the Hospital for Joint Diseases.

A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.

Phenotypic features consistent but not completely diagnostic for spondyloepimetaphyseal dysplasia joint laxity (SEMDJL) were encountered in a 7-year-old-girl. Additional tomographic features of a hypoplastic atlas (assimilation of the posterior arch of the atlas) and unduly long odontoid process were seen. We report what might be a novel type of SEMDJL.

Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia.

Purpose: To present the case of a 14-year-old boy with clinical and radiographic features of pseudorheumatoid chondrodyspalsia with additional, potentially serious, cervical malformations.

Methods: Detailed clinical and radiological examinations were undertaken with emphasis on the usefulness of 3D-CT scanning.

Results: There was synchondrosis between the odontoid and the body of the axis and the cephalad part of the odontoid was detached.