spondyloepiphyseal dysplasia with congenital joint dislocations

A autosomal recessive bone dysplasia (OMIM:143095) clinically characterised by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. It is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. The dislocations improve during childhood, both spontaneously and with surgery; features of spondyloepiphyseal dysplasia become apparent later, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.
Molecular pathology
Defects in CHST3, which encodes a sulfotransferase that transfers sulphate to chondroitin, keratan and sialyl N-acetyllactosamine oligosaccharides, cause spondyloepiphyseal dysplasia with congenital joint dislocations.

单词	spondyloepiphyseal dysplasia with congenital joint dislocations
释义	spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with congenital joint dislocations A autosomal recessive bone dysplasia (OMIM:143095) clinically characterised by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. It is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. The dislocations improve during childhood, both spontaneously and with surgery; features of spondyloepiphyseal dysplasia become apparent later, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. Molecular pathology Defects in CHST3, which encodes a sulfotransferase that transfers sulphate to chondroitin, keratan and sialyl N-acetyllactosamine oligosaccharides, cause spondyloepiphyseal dysplasia with congenital joint dislocations.
随便看	resin-bonded retainer resin bush resin canal resin cement resin chipboard resin-coated copper resin coated proppant resin concrete resin duct resined resin emulsion resin-emulsion paint resiner resines resin exudation resin film infusion resin finish resinic resinic acids resiniferatoxin resiniferous resiniferous plant resinification resiniform resinify