Treatment of congenital clubfoot in a patient with Jacobsen syndrome using Ponseti method: A case report
- Authors: Kruglov I.Y.1, Rumyantsev N.Y.1, Omarov G.G.2, Rumiantceva N.N.1
-
Affiliations:
- Almazov National Medical Research Center
- The Turner Scientic Research Institute for Childrens Orthopedics
- Issue: Vol 6, No 4 (2018)
- Pages: 98-102
- Section: Clinical cases
- URL: https://journals.rcsi.science/turner/article/view/10862
- DOI: https://doi.org/10.17816/PTORS6498-102
- ID: 10862
Cite item
Abstract
Introduction. Jacobsen syndrome, characterized by multiple developmental anomalies, is a rare genetic syndrome caused by a partial deletion of the long arm of the 11th chromosome. The incidence is 1 : 100,000 live births. Patients of this group have malformations of the heart, kidneys, gastrointestinal tract, central nervous system, and skeleton. The severity of clinical features is diverse. Jacobsen syndrome rarely combines with a congenital clubfoot.
Case report. The clinical case of using the Ponseti method for the treatment of congenital clubfoot in combination with Jacobsen syndrome is presented. As a result, a complete primary correction of the foot was obtained, which did not relapse within 2 years.
Discussion. Only brief references to this pathology were found in the literature. In the case of our patient, a greater number of gypsum dressings were required to complete the primary correction of the foot.
Conclusion. Painless foot has been achieved, which has a full range of motion, which confirms the success of the application of the Ponseti method for the treatment of non-idiopathic congenital clubfoot and the need for using it as a starting method.
Full Text
##article.viewOnOriginalSite##About the authors
Igor Yu. Kruglov
Almazov National Medical Research Center
Author for correspondence.
Email: dr.kruglov@yahoo.com
ORCID iD: 0000-0003-1234-1390
MD, Paediatric Orthopaedic Surgeon, Junior Researcher of Research Laboratory of Congenital and Hereditary Pathology Surgery
Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341Nicolai Yu. Rumyantsev
Almazov National Medical Research Center
Email: dr.rumyantsev@gmail.com
ORCID iD: 0000-0002-4956-6211
MD, Paediatric Orthopaedic Surgeon
Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341Gamzat G. Omarov
The Turner Scientic Research Institute for Childrens Orthopedics
Email: ortobaby@yandex.ru
ORCID iD: 0000-0002-9252-8130
MD, PhD, Research Associate
Russian Federation, 64, Parkovaya str., Saint-Petersburg, Pushkin, 196603Natalia N. Rumiantceva
Almazov National Medical Research Center
Email: natachazlaya@mail.ru
ORCID iD: 0000-0002-2052-451X
MD, Paediatric Orthopaedic Surgeon, Junior Researcher of Research Laboratory of Congenital and Hereditary Pathology Surgery
Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341References
- Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4:9. doi: 10.1186/1750-1172-4-9.
- Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004;129A(1):51-61. doi: 10.1002/ajmg.a.30090.
- Pivnick EK, Velagaleti GV, Wilroy RS, et al. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet. 1996;33(9):772-778. doi: 10.1136/jmg.33.9.772.
- Penny LA, Dell’Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995;56(3):676-683.
- Ponseti IV. Congenital clubfoot: fundamentals of treatment. Oxford: Oxford University Press; 1996.
- Ford-Powell VA, Barker S, Khan MS, et al. The Bangladesh clubfoot project: the first 5000 feet. J Pediatr Orthop. 2013;33(4):e40-44. doi: 10.1097/BPO.0b013e318279c61d.
- Pirani S, Outerbridge HK, Moran M, Sawatzky B. A method of evaluating the virgin clubfoot with substantial interobserver reliability, Miami: POSNA; 1995.
- Dimeglio A, Bensahel H, Souchet P, et al. Classification of clubfoot. J Pediatr Orthop B. 1995;4(2):129-136. doi: 10.1097/01202412-199504020-00002.
- Jowett CR, Morcuende JA, Ramachandran M. Management of congenital talipes equinovarus using the Ponseti method: a systematic review. J Bone Joint Surg Br. 2011;93(9):1160-1164. doi: 10.1302/0301-620X.93B9. 26947.
- Gurnett CA, Boehm S, Connolly A, et al. Impact of congenital talipes equinovarus etiology on treatment outcomes. Dev Med Child Neurol. 2008;50(7):498-502. doi: 10.1111/j.1469-8749.2008.03016.x.
- Janicki JA, Narayanan UG, Harvey B, et al. Treatment of neuromuscular and syndrome-associated (nonidiopathic) clubfeet using the Ponseti method. J Pediatr Orthop. 2009;29(4):393-397. doi: 10.1097/BPO.0b013e3181a6bf77.
- Funk JF, Lebek S, Seidl T, Placzek R. Comparison of treatment results of idiopathic and non-idiopathic congenital clubfoot: prospective evaluation of the Ponseti therapy. Orthopade. 2012;41(12):977-983. doi: 10.1007/s00132-012-1982-z.
- Moroney PJ, Noel J, Fogarty EE, Kelly PM. A single-center prospective evaluation of the Ponseti method in nonidiopathic congenital talipes equinovarus. J Pediatr Orthop. 2012;32(6):636-640. doi: 10.1097/BPO.0b013e31825fa7df.
Supplementary files
