1. Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
- Author
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Khurana, Eeshan, Orth, Jennifer, Pletcher, Beth, Turbin, Roger E., and Mazzola, Catherine A.
- Subjects
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LITERATURE reviews , *CRANIOSYNOSTOSES , *INTELLECTUAL development , *GENETIC transcription , *INTRACRANIAL pressure - Abstract
Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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