Presentation
Skeletal survey for a patient with dysmorphic features.
Tapering of the distal phalanges.
Short, wide metacarpals with tapered proximal ends.
Tapered distal phalanges and proximal ends of metatarsals.
Widened humeri with distorted proximal metaphyses.
Tapered heads of ribs.
There is metaphyseal flaring and pointing in the long bones. Laterally tilted proximal tibial metaphyses with resultant genu valgum.
Frontal bossing, dolichocephaly.
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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