Clinical Diagnosis

The clinical features of achondroplasia include the following:

• Short stature
• Rhizomelic (proximal) shortening of the arms and legs with redundant skin folds on limbs
• Limitation of elbow extension
• Trident configuration of the hands
• Genu varum (bow legs)
• Thoracolumbar gibbus in infancy
• Exaggerated lumbar lordosis, which develops when walking begins
• Large head with frontal bossing
• Midface hypoplasia

The radiologic findings of achondroplasia in children include the following:

• Narrowing of the interpediculate distance of the caudal spine
• Notch-like sacroiliac groove
• Circumflex or chevron seat on the metaphysis