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Background <p>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 was conducted in accordance with PRISMA guidelines and registered on OSF. The main databases (PubMed, Medline, Scopus, and Pedro) were searched and 629 records were screened. A total of 42 primary studies met the inclusion criteria, comprising case reports, case series, and cohort studies. The literature mainly covered the surgical management of scoliosis and limb deformities, along with periodic physiotherapy, serial casting, and bracing as part of multidisciplinary care.</p> Case presentation <p>The patient presented multiple malformations, including severe scoliosis, joint contractures, and clubfoot, as well as craniofacial anomalies. Despite these challenges, a combination of early and continuous rehabilitation and surgical interventions supported ambulation, independence in daily living, and quality of life from childhood to adulthood.</p> Conclusions <p>There is limited evidence on rehabilitation in Escobar syndrome. This review, which includes a long-term case study, highlights the importance of early diagnosis and structured physiotherapy programs. A personalized rehabilitation program combined with surgery may improve long-term function, prevent secondary complications and promote independence in all patients with Escobar syndrome.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月22日

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  • Alice Cichelli,
  • Simona Federica Montemitro,
  • Donato Carlo Zotta,
  • Daniele Intraina,
  • Raffaele Nigro,
  • Paolo Barbone,
  • Stefano Delli Pizzi,
  • Teresa Paolucci

摘要

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 was conducted in accordance with PRISMA guidelines and registered on OSF. The main databases (PubMed, Medline, Scopus, and Pedro) were searched and 629 records were screened. A total of 42 primary studies met the inclusion criteria, comprising case reports, case series, and cohort studies. The literature mainly covered the surgical management of scoliosis and limb deformities, along with periodic physiotherapy, serial casting, and bracing as part of multidisciplinary care.

Case presentation

The patient presented multiple malformations, including severe scoliosis, joint contractures, and clubfoot, as well as craniofacial anomalies. Despite these challenges, a combination of early and continuous rehabilitation and surgical interventions supported ambulation, independence in daily living, and quality of life from childhood to adulthood.

Conclusions

There is limited evidence on rehabilitation in Escobar syndrome. This review, which includes a long-term case study, highlights the importance of early diagnosis and structured physiotherapy programs. A personalized rehabilitation program combined with surgery may improve long-term function, prevent secondary complications and promote independence in all patients with Escobar syndrome.