Mucopolysaccharidosis

Case contributed by Hani Makky Al Salam
Diagnosis almost certain

Presentation

Skeletal survey for a patient with dysmorphic features.

x-ray

Tapering of the distal phalanges.
Short, wide metacarpals with tapered proximal ends.

x-ray

Tapered distal phalanges and proximal ends of metatarsals.

x-ray

Widened humeri with distorted proximal metaphyses.

x-ray

Tapered heads of ribs.

x-ray

There is metaphyseal flaring and pointing in the long bones. Laterally tilted proximal tibial metaphyses with resultant genu valgum.

x-ray

Frontal bossing, dolichocephaly.

x-ray

There is straightening of the dorsal lordosis. The inferior-most thoracic and superior-most lumbar vertebral bodies show an abnormal shape with anterior notches on either the superior or mid-thirds, as well as a degree of inferior beaking. The interpedicular distance is preserved.

Case Discussion

Features compatible with a mucopolysaccharoidosis syndrome, probably Morquio syndrome.

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