Q. Proximal limb shortening
(rhizomelic) is noted in
a.achondroplasia
b.Leri-Weil
disease
c.Ellis-von
Creveld syndrome
d.Jeune
syndrome
ANS ----a--- achondroplasia
ACHONDROPLASIA
| Clinical features | Radiological features | |
|---|---|---|
| Common | ‘Bullet-shaped’ vertebral bodies | |
| Short limbs, short trunk | Decrease in interpedicular distance in lumbar spine caudally | |
| Narrow thorax with respiratory distress in infancy | ||
| Bowed legs | Short vertebral pedicles | |
| Prominent forehead with depressed nasal bridge | Posterior vertebral body scalloping | |
| Hydrocephalus and brainstem and spinal cord compression | Squared iliac wings with small sciatic notch | |
| Flat acetabular roofs | ||
| Inheritance: autosomal dominant | Short ribs | |
| Short wide tubular bones | ||
| Relative overgrowth of fibula | ||
| Large skull vault, relatively short base | ||
| Small foramen magnum | ||
| Dilatation of lateral cerebral ventricles | ||
| V-shaped notches in growth plates (chevron deformity) |
REF
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