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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.
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.
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.
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