spondyloepimetaphyseal dysplasia, Li-Shao-Li type

A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-beari

A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.

Signs and symptoms

• Irregular vertebral endplates
• Broad femoral neck
• Scoliosis
• Sclerotic vertebral endplates
• Biconcave vertebral bodies
• Short femoral neck
• Hyperostosis
• Abnormal vertebral epiphysis morphology
• Waddling gait
• Narrow iliac wing