Radiographic assessment of mucopolysaccharidoses: A pictorial review

Table 1 Summary of X-ray findings in each skeletal region and their clinical significance

Skeletal section	Radiographic findings	Clinical significance
Skull	J-shaped sella turcica, cranial thickening, macrocephaly, dolichocephaly, vertical frontal crest, wide-spaced teeth, macroglossia	Suggestive of MPS I (Hurler), II (Hunter); affects airway management and craniofacial development
Spine	Odontoid hypoplasia, atlantoaxial instability, gibbus deformity, platyspondyly, anterior beaking, kyphosis, posterior vertebral scalloping	High risk of spinal cord compression (especially in MPS IV Morquio), requires monitoring for surgical stabilization
Thorax	Paddle-shaped ribs, short/broad clavicles, short sternum, tracheomalacia, narrowed trachea	Affects respiratory function, increases risk of airway obstruction, complicates anesthesia
Pelvis	Hip dysplasia, rounded iliac wings, inferior tapering of the ilium, increased coxofemoral joint space, coxa valga	Leads to joint instability, progressive mobility impairment, often necessitates surgical intervention
Long bones and knees	Shortened diaphyses, bowed femur/tibia, proximal humeral notching, genu valgum, flared metaphyses	Functional limitations in mobility, risk of early osteoarthritis, genu valgum common in MPS IV and I
Hands and feet	Bullet-shaped phalanges, short metacarpals, small carpal bones, Madelung deformity, claw hand, flat feet (pes planus)	Reduces dexterity, grip strength, and mobility; claw hand may require surgical correction