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Revista Mexicana de Ortopedia Pediátrica

ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica
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2011, Number 1

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Rev Mex Ortop Ped 2011; 13 (1)

Orthopedic manifestations in patients with VACTERL association

Capdevila-Leonori R, Toledo-Medina A
Full text How to cite this article

Language: Spanish
References: 10
Page: 32-37
PDF size: 154.31 Kb.


Key words:

VACTERL associations, congenital human malformation, clubhand.

ABSTRACT

Objective: There are few reports of VACTERL associations cases, and given the variability of its clinical presentation, those reports vary in the frequency of the reported anomalies. We report 4 cases and revised their manifestations en the muscle-skeletal system as well as the orthopaedic treatment provided. Methods: We present a case series associating vertebral, limb, renal and anal deformities. All patients were evaluated by a cardiologist and a geneticist; we describe the muscle-skeletal affection and the treatment provided. Results: We included 4 patients, 3 male, 1 female. All patients had imperforated anus, detected and treated in another facility; 2 had congenital scoliosis with thoracic hemivertebrae; 2 had renal impairment, one presented polycystic kidneys and one left renal agenesis. Three patients had limb involvement, two with bilateral clubfoot, two with radial clubhand, one with bilateral involvement. No esophageal or heart abnormality was documented. Discussion: As previously reported, the most frequent association was that of the imperforated anus and limb malformations. In our series we found no genital involvement. There was a negative history of urinary tract infections during the first trimester of the pregnancy. Limb deformities were clubfoot and clubhand. Conclusions: We are convinced that every patient with congenital malformations should be evaluated in a multidisciplinary in order to make a correct diagnosis and provide a proper treatment.


REFERENCES

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  2. Al Kaissi A, Ben Chehida F, Safi H, Nassib N, Ben Ghachem M, Gharbi H, GRill F. Progressive congenital torticollis in VATER association syndrome. SPine 2006; 31: E376-E378.

  3. Castori M, Rinaldi R, Cappellacci S, Grammatico P. Tibial developmental field Defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A 2008; 146: 1259-1266.

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  5. Cho S, Moore S, Fangman T. 1003 consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med 2001; 155: 587-591.

  6. Lyons JK. Smith’s recognizable patterns of human malformation 6th edition. Philadelphia, Pennsylvania: Elsevier Saunders; 2006.

  7. Tickle C. Embriology. In: Gupta A, Kay SPJ, Scheker LR. The growing hand: Diagnosis and management of the upper extremity in Children. First Ed. London, UK: Mosby; 2000: 25-32.

  8. Dimeglio A, Bensahel H, Souchet Ph, Mazeau Ph, Bonnet F. Classification of clubfoot. J Pediatr Orthop 1995; 4: 129-136.

  9. James AM, Green HD, McCarroll HR, MAnske PR. The association of radial deficiency with thumb hypoplasia. J Bone Joint Surg Am 2004; 86: 2196-2205.

  10. Ponseti IV. Congenital clubfoot: Fundamentals of treatment. Oxford University Press 1996.




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Rev Mex Ortop Ped. 2011;13