Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth retardation. Mutations in the EIF2AK3 gene, encoding the eukaryotic initiation factor 2alpha-kinase 3 (EIF2AK3), have been found in WRS patients. Here we describe a girl who came to our attention at 2 months of age with severe hypertonic...

Combination of lumbosacral junction injury with closed vertical shear sacral fracture and disruption of the symphysis pubis is a very rare pattern of injury, particularly with a late presentation. To our knowledge, the complexity of such a lumbosacral injury with pelvic fractures, which was presented with a chronic condition, has never been addressed or identified in the previous literature. We...

Autoimmune inflammation affects the joints of people with inflammatory arthritis. No definitive cause has been identified, despite extensive research. An environmental trigger in a genetically predisposed individual seems to be the most likely mechanism. About 80-100 adults in 100 000 develop inflammatory arthritis every year. 3 Rheumatoid arthritis is the most common inflammatory arthritis, af...

The last decade has seen the advent of a variety of novel biologic agents, which are now used widely across a range of the inflammatory rheumatic diseases. Normally introduced after the trial and failure of conventional disease modifying anti-rheumatic drugs (DMARDs) the biologic class of medicines has been a revolutionary in terms of the scope and depth of response now sought in treating rheum...

We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to consanguineous parents. Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia (OSMED). Histologic study of cartilage shows severe osteoarthritis, which may necessitate joint replacements in early adulthood. Ultr...

True achondroplasia is a well-delineated and distinct entity as familiar to the layman as it is to the members of the medical profession (Maroteaux and Lamy, 1964). In the past the designation was often assigned to a hotchpotch of entities such as Morquio's disease and spondylo-epiphysial dysplasia (McKusick, 1966; Maroteaux and Lamy, 1959; Jacobsen, 1939). It is considered to be due in all ins...

INTRODUCTION A case of young male patients aged 25 years old presented with history of injured from falling heavy object on his back. There was burst Fracture of L5 Vertebrae with grade 3 spondylolisthesis. It was completely different from the types of L5 fracture that had been published up to now. Our patient had combination of a complete burst fracture of the fifth lumbar vertebra with disloc...