Table 2 Radiological skeletal manifestations of MPS: dysostosis multiplex

Skull

Macrocephaly with dolicocephaly

Vertical frontal crest

Abnormal J-shaped sella turcica

Thickened cortical bone

Facial anomalies

 Lack of pneumatization of mastoid process cells and of paranasal cavities

 Obtuse mandibular angle with prognatism

 Teeth widely spaced

Thorax

Paddle-shaped or oar-shaped ribs (widened anteriorly and tapered posteriorly)

Short and thickened clavicles

Spine

Craniovertebral junction: atlantoaxial instability, stenosis and compression of the spinal cord

Thoracolumbar spine: gibbus

Malformations of the vertebral bodies

Pelvis

Rounded iliac wings

Inferior tapering of the ileum

Hip dysplasia

 Poorly developed acetabulum

 Underdevelopment of the medial portion of the proximal femoral epiphysis

 Coxa valga

Long bones

Mildly hypoplastic epiphyses

Proximal humeral notching

Long and narrow femoral neck

Knees

Genu valgum

Hands and feet

V-shaped deformity of the hypoplastic distal ulna and radius

Hypoplastic and irregularly shaped carpal and tarsal bones

Proximal pointed metacarpals and metatarsals

Bullet-shaped phalanges