MSK for Friday, June 5th, 2026

Contributed by Northwell Health - Staten Island University Hospital
Alena Nixon, MD, MS, and Ami Gokli, MD, MSEd.

History

 9-year-old boy with progressive gait abnormality and lower extremity deformity. Normal cognition.

Images (Click any image to enlarge)

Question

Which imaging finding most strongly supports the underlying diagnosis?

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Correct answer

Central vertebral body beaking

Discussion

Morquio syndrome (MPS IV)

Morquio syndrome is an inherited mucopolysaccharidosis that is caused by a deficiency in specific enzymes needed to break down glycosaminoglycans [1].  Children with this syndrome often appear normal at birth, with symptoms developing in early childhood. Classic imaging features include

  • Dysostosis multiplex pattern

  • Platyspondyly (flattening of the vertebral bodies) with central beaking (distinguishes it from Hurler syndrome, which has inferior beaking)

  • Flared iliac wings and hip dysplasia

  • Odontoid hypoplasia or os odontoideum

  • Chest abnormalities (paddle-shaped ribs, pectus carinatum)

  • Short stature

  • Wide metacarpals with proximal pointing of index to little finger

A critical next step is evaluating for atlantoaxial instability, as there is risk for spinal cord compression, even if asymptomatic [1]. This is typically assessed with flexion and extension radiographs, and MRI of the cervical spine for cord compression.

Diagnosis of Morquio syndrome is based on imaging showing characteristic skeletal changes, clinical presentation, and enzyme activity testing within the urine or blood.

Differential diagnosis

Platyspondyly with central beaking distinguishes it from Hurler syndrome, which has inferior beaking.

Additional images

Lateral spine radiograph demonstrating classic features of dysostosis multiplex including platyspondyly (flattening of the verebral bodies, blue circles) with central beaking (red arrows).
Frontal pelvic radiograph demonstrating characteristic pelvic abnormalities including flared, “goblet” shaped iliac wings (blue circles), coxa valga with hypoplastic femoral heads (red arrows) and shallow acetabula with increased acetabular angles (yellow arrows).
MRI C-Spine of the patient at age 3, displaying lack of ossification of the odontoid process, which appears T2 hypointense (red circle). The C2 body normally fuses to the odontoid by approximately 6 years of age [4].
(Age 9) Lateral cervical spine radiograph demonstrates continued separation of the odontoid from the body of C2, consistent with os odontoideum (blue outline and arrow).
Single AP radiograph of the left hand demonstrating short and wide metacarpals with classic proximal pointing (blue arrows), and metaphyseal flaring of the long bones (red arrows).

References

  • Padash, S., Obaid, H., Henderson, R. D., Padash, Y., Adams, S. J., Miller, S. F., & Babyn, P. (2023). A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV). Pediatric radiology, 53(5), 971-983.
  • Robart, A. C., Alexander, A. F., Al-Mehiawi, A., Abuallut, I., & Hazon, N. S. (2023). A narrative review of morquio syndrome: mucopolysaccharidosis (MPS) type IV. The Open Ophthalmology Journal, 17(1).
  • Williams, N., Narducci, A., Eastwood, D. M., Cleary, M., & Thompson, D. (2018). An evidence-based approach to the management of children with morquio a syndrome presenting with craniocervical pathology. Spine, 43(24), E1443-E1453.
  • Menezes, A. H. (1999). Pathogenesis, dynamics, and management of os odontoideum. Neurosurgical focus, 6(6), E4.