autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.

Signs and symptoms

• Spondyloepiphyseal dysplasia
• Irregular vertebral endplates
• Disproportionate short-trunk short stature
• Scoliosis
• Broad femoral neck
• Genu varum
• Flat capital femoral epiphysis
• Decreased hip abduction
• Platyspondyly
• Lumbar hyperlordosis