Diastrophic Dwarfism
- twisted dwarf
- disproportionate dwarfism
- very short limbs
- rhizomelic
- AR
Clinical Features
Skull
- Superimposed calcified pinnae
- swollen cauliflower ears
Spine
Cervical Kyphosis
- May be vertebral wedging
- may need immediate surgery
Thoracic Kyphoscoliosis
- Progressive structural curve
Lumbar lordosis - 2° to flexion contractures
Interpedicular narrowing from L1 to L5
Spina bifida occulta
Long Bones
Short & broad long bones
- Flaring of metaphyses
- Flattened & irregular epiphyses
Shortened ulna/ fibula
Hip
- Delayed appearance of capital femoral epiphyses
- Central saucer-shaped defect in capital femoral epiphysis
- Hip dislocation common
Hitchhiker thumb
- abducted over a short MC
Severe joint contractures
- hip and knee requiring release
- Subluxed or dislocated Patella
CTEV
- hitchhiker great toe
Cleft palate