Platyspondylic Dysplasia, Torrance Type, COL2A1-Related

Synonyms: lethal short-limbed platyspondylic dwarfism, Torrance type; thanatophoric dysplasia, Torrance variant; also includes platyspondylic lethal skeletal dysplasia, Luton type, PLSDL, thanatophoric dysplasia, Luton variant.