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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2.

Figure 2.

Radiographs of the late-infantile form of GM1 gangliosidosis

A. The odontoid process is under-ossified (white arrow). The vertebral bodies are flattened (black arrow).

B. Hip radiographs showing dysostosis multiplex. The infero-lateral portions of the ilia are not formed, leading to slanting of their lower margins (gray bracket). The capital femoral epiphyses are well-rounded, slightly larger and shorter than normal, and in valgus position (white bracket).

C. The vertebral bodies are more severely flattened dorsally than anteriorly (white arrow) and pear-shaped (black arrow). Defective ossification of the anterior portions of the vertebral bodies in the thoraco-lumbar junction results in a hook shape (black arrow).

From: GLB1-Related Disorders

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