Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 6 of 6 for platyspondylic
  1. Platyspondylic dysplasia, Torrance type 
    Platyspondylic dysplasia, Torrance type is a severe disorder of bone growth. Infants with this condition have very ... The serious health problems seen in infants with platyspondylic dysplasia, Torrance type often result in death before ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  2. Thanatophoric dysplasia 
    Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  3. COL2A1 gene 
    ... COL2A1 gene have been identified in individuals with platyspondylic dysplasia, Torrance type. This severe disorder of bone ... shortly thereafter. The variants that are associated with platyspondylic dysplasia, Torrance type often change a single amino ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. Spondyloperipheral dysplasia 
    ... G. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and ... mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics