1/42. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the united states.This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, an uncommon autosomal recessive skeletal dysplasia rarely reported outside of south africa. patients with SEMDJL have vertebral abnormalities and ligamentous laxity that results in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubbed feet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. Diagnosis in infancy may be difficult because many of the typical findings are not apparent early and only evolve over time. We review the physical and radiographic findings in two unrelated patients with this disorder in order to increase the awareness of this disorder, particularly for clinicians outside of south africa.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/42. Spondyloepiphyseal dysplasia tarda with progressive arthropathy.Spondyloepiphyseal dysplasia tarda with progressive arthropathy, described by Wynne-Davies et al., is a rare autosomal recessive disorder. It is characterised by generalised platyspondyly and epiphyseal involvement, with enlargement of both ends of the short tubular bones of the hands. Clinical features include onset in childhood, a disproportionately short stature and premature osteoarthritis. We describe the clinical and radiographic findings of a young woman suffering from spondyloepiphyseal dysplasia tarda with progressive arthropathy.- - - - - - - - - - ranking = 5117.2922498835keywords = osteoarthritis (Clic here for more details about this article) |
3/42. 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.- - - - - - - - - - ranking = 5117.2922498835keywords = osteoarthritis (Clic here for more details about this article) |
4/42. Progressive pseudorheumatoid dysplasia.A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
5/42. siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings.Schwartz-Jampel syndrome (SJS) is a disorder characterized by myotonia, joint contractures, skeletal abnormalities, facial dysmorphism and growth retardation. We present two boys of ages 4 and 8 years with SJS. Their clinical, electromyographic and histopathological findings were similar to those described, except for computed tomography (CT) images that revealed diffuse high attenuation in sternocleidomastoid muscles and low attenuation in the paraspinal, quadriceps, sartorius, soleus and gastrocnemius muscles. This is the first report describing abnormal muscle CT findings associated with SJS. Additional studies of muscle CT might help to improve understanding of the pathogenesis of SJS.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
6/42. tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features.Kniest dysplasia is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, short limbs, prominent joints, premature osteoarthritis, and craniofacial manifestations. The craniofacial abnormalities include tracheomalacia, midface hypoplasia, cleft palate, early onset myopia, retinal detachment, prominent eyes, and sensorineural hearing loss. Radiologic features include dumbbell-shaped femora, platyspondylia with anterior wedging of vertebral bodies, coronal clefts of thoracolumbar vertebral bodies, low broad ilia, and short tubular bones with broad metaphyses and deformed large epiphyses. This form of chondrodysplasia is associated with mutations in type II collagen splicing sequences. Mutations have been identified in the COL2A1 (type II collagen) gene between exons 12 and 24. Type II collagen is the predominant structural protein in cartilage, and mutations in this collagen account for the Kniest dysplasia phenotype. Histopathologic and ultrastructural features of epiphyseal plate cartilage have been described, but tracheal cartilage in an affected neonate has not been examined. The authors report the histopathologic and ultrastructural findings of anterior tracheal cartilage from a 35-day-old female with suspected chondrodysplasia who had tracheomalacia with airway obstruction. The tracheal cartilage was moderately cellular, but lacked cystic and myxoid changes in its matrix. The chondrocytes had abundant cytoplasmic PAS-positive inclusions. Some of these inclusions were diastase-resistant and were also highlighted on alcian blue staining. Ultrastructural examination revealed chondrocytes with greatly dilated rough endoplasmic reticulum containing granular proteinaceous material. There were also frequent aggregates of typical glycogen. The defect in the COL2A1 gene is secondary to mutations, especially at splice junctions, and this markedly disrupts triple helix formation. The mutated type II procollagen results in intracellular retention within the chondrocytes, as abundant granular proteinaceous material within the dilated RER. A relationship is known to exist between the proportion of mutated to normal type II collagen in the matrix and the severity of the phenotype. With low levels of normal type II collagen, the phenotypic manifestations become more severe, such as in achondrogenesis type II. Both the quantity and quality of type II collagen modulates the phenotypic expression of type II collagenopathies.- - - - - - - - - - ranking = 5117.2922498835keywords = osteoarthritis (Clic here for more details about this article) |
7/42. A case report of spondyloepiphyseal dysplasia congenita.Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. patients also frequently suffer from atlanto-axial instability due to os odontoideum. Compression of the spinal cord caused by atlanto-axial instability is a common, serious complication in SED patients, and causes severe spinal cord symptoms or occasionally sudden death. We present an SED patient who underwent a posterior fusion of the occiput to the cervical spine for severe spinal cord symptoms due to atlanto-axial instability.- - - - - - - - - - ranking = 3keywords = spinal (Clic here for more details about this article) |
8/42. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis. Radiographic manifestations include epiphyseal, metaphyseal and vertebral abnormalities. Mutations in the cartilage oligomeric matrix protein (COMP) have been identified to cause PSACH. Most of them affect one of the eight calcium-binding domains of COMP. We describe a clinically and radiologically typical PSACH 4-year-old girl and her 31-year-old father. A novel mutation, 1345-1347CCC deletion in exon 13, of COMP was identified in both patients. The deletion would be expected to result in the loss of the conserved proline at codon 449 from the sixth calcium-binding domain. This result further supports that COMP is the only gene, discovered to date, responsible for PSACH across different populations and that the calcium-binding domains are important to the function of the normal COMP.- - - - - - - - - - ranking = 5117.2922498835keywords = osteoarthritis (Clic here for more details about this article) |
9/42. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. We report on a patient with SEMDJL, who presented with all the characteristic orthopedic manifestations of the disorder, required multiple operative procedures, and has the longest reported follow-up and survival into adulthood with a favorable outcome. We describe all the clinical and radiographic findings that can allow an early diagnosis of this type of skeletal dysplasia, which can lead to profound disability with potentially lethal spinal and pulmonary complications in early childhood. In view of the severe clinical and genetic implications, diagnostic precision is of vital importance, particularly since the disorder is currently believed to be more common than initially reported.- - - - - - - - - - ranking = 2keywords = spinal (Clic here for more details about this article) |
10/42. Atelosteogenesis type II: sonographic and radiological correlation.Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.- - - - - - - - - - ranking = 2keywords = spinal (Clic here for more details about this article) |
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