A rare case of popliteal pterygium syndrome

  • Hans A, Bajoria R S, Singhal V This study is performed in Department of Orthopedics, GRMC, Gwalior
Keywords: popliteal pterygium syndrome, rare genetic disorder, musculoskeletal anomalies

Abstract

Popliteal Pterygium Synrdome is an extremely rare genetic disorder which can present with multiple body anomalies, especially the musculoskeletal anomalies.

The very striking characteristic is presence of popliteal pterygium contracture; this connective tissue band can extend from ischial tuberosity to the calcaneum which can severely restrict range of motion, knee extension, abduction and rotation. This case report presents a case of 3-year-old girl child with significant unilateral deformity in left lower limb. Examination revealed extensive popliteal web/contracture left side with associated deformity at left ankle. Serial surgical correction was done with uniplanar ex fix (Distractor) application followed by Tendo Achillis tenotomy and serial splinting with regular follow-ups done. The child was treated successfully with satisfactory results.

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References

1. Gorlin RJ, Sedano HO, Cervenka J. Popliteal pterygium svndrome. Pediatrics. 1968; 41: 503– 9.
2. Escobar V, Weaver D. Popliteal pterygium syndrome. A phenotypic and genetic analysis. J Med Genet. 1978; 15: 35– 42.
3. Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, et al. . Mutation in RIPK4 Cause the autosomal recessive form of popliteal pterygium syndrome. Am J Hum Genet. 2011; 90: 76– 85.
Published
2024-01-31
How to Cite
1.
Hans A, Bajoria R S, Singhal V. A rare case of popliteal pterygium syndrome. ojmpc [Internet]. 2024Jan.31 [cited 2024Apr.13];29(02):62-3. Available from: https://ojmpc.com/index.php/ojmpc/article/view/180
Section
Case Report