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22-04-2024 | Craniosynostosis | Case Report

Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis

Authors: Eeshan Khurana, Jennifer Orth, Beth Pletcher, Roger E. Turbin, Catherine A. Mazzola

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.

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Title: Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
Authors: Eeshan Khurana
Jennifer Orth
Beth Pletcher
Roger E. Turbin
Catherine A. Mazzola
Publication date: 22-04-2024
Publisher: Springer Berlin Heidelberg
Keywords: Craniosynostosis
Intracranial Hypertension
Tarsorrhaphy
Published in: Child's Nervous System
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-024-06415-7

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Springer Medicine

Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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