Abstract
Snyder-Robinson syndrome is an extremely rare genetic disorder, caused by mutations of the spermine synthase gene. We report a novel case of Snyder-Robinson syndrome, caused by a de novo mutation and first misdiagnosed with osteogenesis imperfecta. Clinical features, course, and genetic analysis are presented. The patient was treated with bisphosphonates for a decade, until developing an atypical femoral fracture. Teriparatide was then administered for 2 years and then changed to denosumab every 6 months, improving his bone density mass and preventing further fractures.
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Abbreviations
- SRS:
-
Snyder-Robinson syndrome
- SMS:
-
Spermine synthase
- OI:
-
Osteogenesis imperfecta
- DXA:
-
Dual-energy X-ray absorptiometry
- BMD:
-
Bone mineral density
- AFF:
-
Atypical femoral fractures
References
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We wish to thank our patient and his family for allowing us to report his clinical case.
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Valera Ribera, C., Martinez-Ferrer, À., Flores Fernández, E. et al. Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta. Osteoporos Int 33, 1177–1180 (2022). https://doi.org/10.1007/s00198-021-06228-3
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DOI: https://doi.org/10.1007/s00198-021-06228-3