Scoliosis surgery presents the anesthetist with specific clinical challenges. Since scoliosis is the most common problem for which patients of congenitally short stature present to the operating room, the preoperative evaluation of dwarfs is discussed here in the context of a patient with spondyloepiphyseal dysplasia congenita. In the case described, many of the deformities associated with dwar...

We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 ...

SEDT (spondyloepiphyseal dysplasia tarda) is a late-onset X-linked recessive skeletal dysplasia caused by mutations in the gene SEDL coding for sedlin. In the present paper, we investigated four missense mutations observed in SEDT and compare biochemical and cellular characteristics relative to the wild-type protein to address the mechanism of disease and to gain insight into the function of th...

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia...

Kniest dysplasia is a variant of the spondyloepiphyseal dysplasias caused by an abnormal synthesis of collagen type II. In 1952, Kniest reported the first specific description of a variety of chondrodystrophy that he termed an atypical chondrodystrophy, which came to be known as Kniest dysplasia. A patient with Kniest dysplasia usually is seen with characteristic round facies, midfacial flatnes...

OBJECTIVE: Skeletal dysplasias is a complex disease group characterized by disproportionate short stature and various orthopedic complications. X-Linked Spondyloepiphyseal Dysplasia Tarda an X-linked inherited skeletal dysplasia accompanied progressive spondyloepi(meta)physeal premature osteoartritis. The gene related to the disorder trafficking protein particle 2 (TRAPPC2). Progressive pseudor...