8 top medical experts on Torrance Type Platyspondylic Lethal Skeletal Dysplasia across 0 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Torrance Type Platyspondylic Lethal Skeletal Dysplasia: Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Torrance Type Lethal Short-Limbed Platyspondylic Dwarfism,  PLSD-T,  PLSD-TL,  Torrance-Luton Type Platyspondylic Chondrodysplasia,  Luton Type Platyspondylic Lethal Skeletal Dysplasia,  Torrance Type Platyspondylic Skeletal Dysplasia,  Luton Variant Thanatophoric Dysplasia,  Torrance Variant Thanatophoric Dysplasia


  

        

                    


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