Conditions / Genetic
spondylometaphyseal dysplasia corner fracture type
info · Genetic
A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35.
Signs and symptoms
- Metaphyseal irregularity
- Short stature
- Scoliosis
- Ovoid vertebral bodies
- Hypoplasia of the odontoid process
- Genu varum
- Short femoral neck
- Corner fracture of metaphysis
- Waddling gait
- Pectus carinatum
Also known as: SMDCF; spondylometaphyseal dysplasia Sutcliffe type