autosomal dominant spondyloepiphyseal dysplasia tarda

A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.

Signs and symptoms

• Kyphoscoliosis
• Irregular vertebral endplates
• Avascular necrosis of the capital femoral epiphysis
• Barrel-shaped chest
• Hypoplasia of the odontoid process
• Malar flattening
• Short neck
• Knee pain
• Hip pain
• Platyspondyly