Multiple pterygium in Escobar syndrome: a scoping review for a personalized rehabilitative plan

Abstract Background This scoping review evaluated conservative treatment approaches for Escobar syndrome, focusing in particular on rehabilitation strategies to improve function and reduce disability. It includes a case report of a 25-year-old female carrying a homozygous MYH3 mutation. The review w...

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Hauptverfasser:	Alice Cichelli, Simona Federica Montemitro, Donato Carlo Zotta, Daniele Intraina, Raffaele Nigro, Paolo Barbone, Stefano Delli Pizzi, Teresa Paolucci
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	SpringerOpen 2025-12-01
Schriftenreihe:	Egyptian Journal of Medical Human Genetics
Schlagworte:	Pterygium syndrome Escobar variant Conservative treatment Physiotherapy Case report
Online-Zugang:	https://doi.org/10.1186/s43042-025-00817-1
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