ACHONDROPLASIA

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)

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REF 

Adam: Grainger & Allison's Diagnostic Radiology, 5th ed.