The Gollop–Wolfgang Complex: A Case Report

Abstract

Background: The Gollop–Wolfgang complex is a rare congenital limb deformity characterized by a bifid femur, tibial hemimelia, and ectrodactyly of the hand. First described in 1980, fewer than 200 cases have been reported globally, with an estimated incidence of 1:1,000,000 live births. Case Presentation: We report a 2-month-old female infant with classic features of the Gollop–Wolfgang complex, including a left bifid femur, complete absence of the left tibia, and contralateral tetradactyly. A clinical examination revealed significant limb length discrepancy, knee instability, equinovarus foot deformity, and skeletal abnormalities confirmed by imaging studies. Extensive investigations, including echocardiography and genetic testing, excluded systemic anomalies and identified non-pathogenic variants in the Collagen Type XI Alpha 2 (COL11A2) and EVC2 genes. A surgical resection of the bifid femur was performed. Results: This case highlights the importance of early diagnosis and a multidisciplinary approach in managing the Gollop–Wolfgang complex. While our case presented with typical features, subtle variations highlight the phenotypic spectrum of the condition. The combination of tibial hemimelia and bifid femur frequently necessitates knee disarticulation due to the absence of a viable tibial anlage, while limb salvage techniques remain challenging. A genetic evaluation identified variants of uncertain significance in the COL11A2 and EVC2 genes, indicating that the genetic basis of the condition is not fully understood. Conclusions: These findings emphasize the need for continued genetic research to clarify the etiology of the Gollop–Wolfgang complex and to improve treatment strategies, particularly in refining surgical approaches and exploring new therapeutic options.

Keywords

• bifid femur
• whole genome sequencing
• split-hand/foot malformation
• hemimelia