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

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.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

References

  1. 1.

    Charon A, Gillerot Y, Van Maldergem L, Van Schaftingen M, de Bont B, Koulischer L (1990) The Marshall-smith syndrome. Eur J Pediatr 150(1):54–55

    CAS  Article  Google Scholar 

  2. 2.

    Cullen A, Clarke T, O'Dwyer T (1997) The Marshall-Smith syndrome: a review of the laryngeal complications. Eur J Pediatr 156(6):463–464

    CAS  Article  Google Scholar 

  3. 3.

    Ezaldein H, Metzler P, Persing J, Steinbacher D (2014) Three-dimensional orbital dysmorphology in metopic synostosis. J Plast Reconstr Aesthet Surg 67(7):900–905

    Article  Google Scholar 

  4. 4.

    Malan V, Rajan D, Thomas S, Shaw A, Louis dit Picard H, Layet V et al (2010) Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 87(2):189–198

    CAS  Article  Google Scholar 

  5. 5.

    Marshall RE, Graham CB, Scott RC, Smith DW (1971) Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr 78:95–101

    CAS  Article  Google Scholar 

  6. 6.

    Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C (2015) Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr Res 78(5):533–539

    CAS  Article  Google Scholar 

  7. 7.

    Mitsukawa N, Satoh K (2010) Maxillomandibular distraction osteogenesis for Marshall–Smith syndrome. J Plast Reconstr Aesthet Surg 63(8):e611–e614

    Article  Google Scholar 

  8. 8.

    Nischal K (2014) Visual surveillance in craniosynostoses. Am Orthopt J 64(1):24–31

    Article  Google Scholar 

  9. 9.

    Pappas CTE, Rekate HL (1991) Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. J Neurosurg 75(2):317–319

    CAS  Article  Google Scholar 

  10. 10.

    Schanze D, Neubauer D, Cormier-Daire V, Delrue M, Dieux-Coeslier A, Hasegawa T et al (2014) Deletions in the 3′ part of theNFIXGene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Hum Mutat 35(9):1092–1100

    CAS  Article  Google Scholar 

  11. 11.

    Shaw AC, van Balkom IDC, Bauer M, Cole TRP, Delrue M-A, Van Haeringen A, Holmberg E, Knight SJL, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RCM (2010) Phenotype and natural history in Marshall–Smith syndrome. Am J Med Genet Part A 152A:2714–2726

    Article  Google Scholar 

  12. 12.

    Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G (1993) Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet 30(10):877–879

    CAS  Article  Google Scholar 

  13. 13.

    Sumiya N, Ito Y, Hayakawa O, Oishi Y, Ota M (2002) Long-term survival of a patient with Marshall-Smith syndrome. Scand J Plast Reconstr Surg Hand Surg 36(2):114–118

    Article  Google Scholar 

  14. 14.

    Summers D, Cooper H, Butler M (1999) Marshall-Smith syndrome. Clin Dysmorphol 8(3):207–210

    CAS  Article  Google Scholar 

  15. 15.

    Travan L, Oretti C, Zennaro F, Demarini S (2008) Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. Am J Med Genet A 146A(16):2138–2140

    Article  Google Scholar 

  16. 16.

    Williams D, Carlton D, Green S, Pearman K, Cole T (1997) Marshall-Smith syndrome: the expanding phenotype. J Med Genet 34(10):842–845

    CAS  Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Bettina Knie.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Knie, B., Morota, N., Ihara, S. et al. Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature. Childs Nerv Syst 37, 677–682 (2021). https://doi.org/10.1007/s00381-020-04741-0

Download citation

Keywords

  • Fronto-orbital advancement
  • Marshall-Smith syndrome
  • Craniofacial dysmorphism
  • Exophthalmos