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Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature

Objective The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. Patient and method We presented herein a case of a 2-year-old female patient with MSS who underwent fr...

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Bibliographic Details
Published in:Child's nervous system 2021-02, Vol.37 (2), p.677-682
Main Authors: Knie, Bettina, Morota, Nobuhito, Ihara, Satoshi, Tamada, Ikkei
Format: Article
Language:English
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Summary:Objective The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. Patient and method We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis. Results The patient’s proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. A second FOA followed by revision tarsorrhaphy further improved eye closure. Conclusion Surgical procedures to correct dysplastic features and limit neurological impairment are a worthwhile supportive treatment for improving the quality of life and general condition of patients with MSS.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-020-04741-0