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Related Experiment Video

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The Gollop-Wolfgang Complex: A Case Report.

Jun-Bum Kim1, Byung-Ryul Lee1, Jong-Seok Park1

  • 1Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea.

Pediatric Reports
|April 25, 2025
PubMed
Summary

The Gollop-Wolfgang complex, a rare limb deformity, requires early diagnosis and multidisciplinary care. This case underscores the condition's spectrum and the need for further genetic research to improve treatment strategies.

Keywords:
bifid femurhemimeliasplit-hand/foot malformationwhole genome sequencing

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Area of Science:

  • Medical Genetics
  • Orthopedic Surgery
  • Developmental Biology

Background:

  • The Gollop-Wolfgang complex is a rare congenital limb malformation.
  • Characterized by bifid femur, tibial hemimelia, and ectrodactyly.
  • Estimated incidence of 1:1,000,000 live births with <200 reported cases.

Observation:

  • A 2-month-old female infant presented with classic Gollop-Wolfgang complex features.
  • Included left bifid femur, left tibial absence, and contralateral tetradactyly.
  • Clinical findings: limb length discrepancy, knee instability, equinovarus foot deformity.

Findings:

  • Surgical resection of the bifid femur was performed.
  • Genetic testing revealed non-pathogenic variants in COL11A2 and EVC2 genes.
  • Phenotypic variations highlight the condition's spectrum.

Implications:

  • Early diagnosis and multidisciplinary management are crucial.
  • Limb salvage is challenging; knee disarticulation is often necessary.
  • Further genetic research is needed to understand etiology and refine treatments.