platyspondylic lethal skeletal dysplasia (PLSD)

Pathology

• heterogeneous group of chondrodysplasias

Clinical manifestations

• severe platyspondyly & limb shortening

More general terms

• skeletal dysplasia

More specific terms

• platyspondylic lethal skeletal dysplasia (PLSD-SD)
• platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)