medigraphic.com
SPANISH

Revista Mexicana de Ortopedia Pediátrica

ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2025, Number 1-3

<< Back Next >>

Rev Mex Ortop Ped 2025; 27 (1-3)

Approach to residual deformities in supination and adduction of the foot in Rubinstein-Taybi syndrome

Maldonado MLC, Rincón-Lozano JD, Bossio JE, Martínez PRO, Martínez BI, Villanueva J, Bula ME
Full text How to cite this article 10.35366/121647

DOI

DOI: 10.35366/121647
URL: https://dx.doi.org/10.35366/121647

Language: Spanish
References: 12
Page: 24-28
PDF size: 2012.71 Kb.


Key words:

Rubinstein-Taybi syndrome, foot malformations, adductus, supine.

ABSTRACT

Introduction: Rubinstein-Taiby syndrome (RTS) is a disease of genetic origin, of autosomal dominant inheritance, with a prevalence of 1/100,000-150,000 births. It presents with multiple morphological alterations, among which the musculoskeletal ones stand out. Foot deformities in TRS are not as frequent as in the upper limb, however, foot deformities can have repercussions on the patient's functionality depending on the severity and symptomatology. Case presentation: we present the case of a 12-year-old male with TRS with a history of management with the Ponseti method, who presents with multiplanar foot deformities due to bilateral hallux adductus deformity and residual deformity in supination and bilateral adductus of the foot. Surgical management with osteomuscular balance is proposed to improve the patient's functionality, evidenced during follow-up. Conclusions: deformities of the musculoskeletal system are frequent and can alter the patient's functionality. Foot deformities require surgical management to avoid alteration of functionality in certain cases. Correction with bone and musculotendinous procedures that compensate the deformity are necessary to avoid recurrence of deformities. A multidisciplinary approach is required to improve outcomes in patients with TRS.


REFERENCES

  1. Jain A, Rehman S, Smith G. Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome. J Hand Surg Eur Vol. 2010; 35(4): 296-301. doi: 10.1177/1753193409354523.

  2. Spena S, Gervasini C, Milani D. Ultra-rare syndromes: the example of Rubinstein-Taybi syndrome. J Pediatr Genet. 2015; 4(3): 177-186. doi: 10.1055/s-0035-1564571.

  3. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963; 105: 588-608. doi: 10.1001/archpedi.1963.02080040590010.

  4. Stevens CA. Rubinstein-Taybi syndrome. 2002. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2025.

  5. Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr. 2015; 41: 4. doi: 10.1186/s13052-015-0110-1.

  6. Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S et al. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J Med Genet. 2024; 61(6): 503-519. doi: 10.1136/jmg-2023-109438.

  7. Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi syndrome: a model of epigenetic disorder. Genes (Basel). 2021; 12(7): 968. doi: 10.3390/genes12070968.

  8. Carpiaux AM, Hosseinzadeh P, Muchow RD, Iwinski HJ, Walker JL, Milbrandt TA. The effectiveness of the Ponseti method for treating clubfoot associated with amniotic band syndrome. J Pediatr Orthop. 2016; 36(3): 284-288. doi: 10.1097/BPO.0000000000000444.

  9. Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet Suppl. 1990; 6: 17-29. doi: 10.1002/ajmg.1320370604.

  10. Mehlman CT, Myer DW, Browne RH. Instability of the patellofemoral joint in Rubinstein-Taybi syndrome. J Pediatr Orthop. 1998; 18(3): 292-295. doi:10.1097/00004694-199805000-00012.

  11. Tatara Y, Watanabe K, Kaga H. Rubinstein-Taybi syndrome with scoliosis treated surgically: report of two cases. Scoliosis. 2011; 6: 21. doi: 10.1186/1748-7161-6-21.

  12. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003; 119A(2): 101-110. doi: 10.1002/ajmg.a.10009.



EVIDENCE LEVEL

V




Figure 1
Figure 2
Figure 3
Figure 4

2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Mex Ortop Ped. 2025;27