spondylometaphyseal dysplasia type A4

A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.

Signs and symptoms

• Severe short stature
• Osteoporotic metatarsal
• Metaphyseal widening
• Brachydactyly
• Coxa valga
• Ovoid vertebral bodies
• Metaphyseal irregularity
• Narrow greater sciatic notch
• Irregular capital femoral epiphysis
• Flat acetabular roof