Conditions / Musculoskeletal
Torrance type platyspondylic dysplasia
info · Musculoskeletal
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Signs and symptoms
- Thoracic hypoplasia
- Severe limb shortening
- Short long bone
- Limb undergrowth
- Metaphyseal irregularity
- Hypoplastic ilia
- Micromelia
- Pulmonary hypoplasia
- Rhizomelia
- Severe platyspondyly
Also known as: PLSD-T; PLSDT; lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type