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

Childs Nerv Syst. 2021 Feb;37(2):677-682. doi: 10.1007/s00381-020-04741-0. Epub 2020 Jul 2.

Abstract

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.

Keywords: Craniofacial dysmorphism; Exophthalmos; Fronto-orbital advancement; Marshall-Smith syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple* / surgery
  • Bone Diseases, Developmental
  • Child, Preschool
  • Craniofacial Abnormalities* / complications
  • Craniofacial Abnormalities* / diagnostic imaging
  • Craniofacial Abnormalities* / surgery
  • Craniosynostoses* / complications
  • Craniosynostoses* / diagnostic imaging
  • Craniosynostoses* / surgery
  • Female
  • Frontal Bone / surgery
  • Humans
  • Infant
  • Orbit / diagnostic imaging
  • Orbit / surgery
  • Plastic Surgery Procedures*
  • Quality of Life
  • Septo-Optic Dysplasia

Supplementary concepts

  • Marshall-Smith syndrome