Diastrophic Dysplasia

 

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