Gollop-Wolfgang Complex (GWC) is a rare congenital musculoskeletal anomaly marked by distal femoral duplication and tibial aplasia. While often linked with other systemic defects like those in the VACTERL association, our case uniquely presents an isolated manifestation of this complex. The exact genetic cause of GWC isn't fully understood, highlighting a gap in our knowledge of limb development disorders. Treatment typically involves early surgical intervention, such as knee disarticulation and prosthetic fitting, though limb salvage procedures are also recognized. Despite its global rarity (fewer than 200 reported cases), GWC is rarely documented in Africa. This report details a case of GWC from North Africa, offering insights into its presentation and management within this demographic. We present a 14-year-old Moroccan male, the third of three siblings, who presented with a right lower limb deformity evident since birth. Clinically, he showed a characteristic Y-shaped distal thigh due to palpable femoral bifurcation, a fixed knee flexion deformity, and apparent absence of the tibia. Radiographs confirmed a bifurcated right distal femur and right tibial hemimelia (Jones Type Ia). Notably, our patient had no associated upper limb, cardiac, neurological, or renal deformities, nor ectrodactyly or absent radii, distinguishing his presentation from many reported cases. Prenatal diagnosis wasn't established due to a lack of antenatal ultrasound follow-up. Despite thorough counseling on surgical options, including amputation for prosthetic fitting, the patient declined intervention due to fears of postoperative pain and complications. Consequently, we initiated a conservative management plan focused on rehabilitation, crutch use, unipodal balance exercises, and gait training to optimize his functional independence. This case report underscores the diagnostic challenges of GWC and highlights the critical role of patient autonomy in treatment decisions, particularly when conventional surgical approaches are met with patient refusal. Our experience suggests that a dedicated, non-surgical rehabilitation pathway can be a viable alternative, even in complex skeletal anomalies. This unique case contributes valuable clinical data, expanding the limited global understanding of GWC and emphasizing the need for comprehensive documentation of rare conditions to refine personalized management strategies.

Congenital anomalies remain a significant global health challenge, affecting 6 %-8 % of newborns worldwide and contributing to high rates of infant mortality and disability. This case report presents a unique constellation of congenital malformations in a six-year-old male born to consanguineous parents with a family history of metabolic disorders, including maternal diabetes and paternal smoking-both known risk factors for birth defects. The patient exhibited a complex phenotype including rib agenesis, hydrocephalus, sacral agenesis, atrial septal defect, and severe lower limb deformities characterized by complete tibial absence on the right and a 180-degree rotational malalignment of the left tibia and fibula. These features partially overlap with known syndromes such as VACTERL association and Gollop-Wolfgang complex, but the presence of hydrocephalus and certain skeletal abnormalities suggest a previously unreported syndrome. A multidisciplinary surgical approach was employed, involving ventriculoperitoneal shunting for hydrocephalus, hernia repair, staged amputations on the right limb, and a novel rotationplasty procedure on the left limb to restore function and enable prosthetic fitting. Postoperative rehabilitation led to improved mobility, with the child achieving assisted ambulation. This case underscores the importance of early diagnosis, individualized surgical planning, and comprehensive rehabilitation in managing complex congenital disorders. Furthermore, it highlights the need for expanded genetic and phenotypic research to classify novel syndromes and optimize therapeutic strategies, especially in populations with high consanguinity rates and environmental risk exposures.

Tibial hemimelia is a rare malformation with a wide clinical spectrum of presentation. The severity of this condition can be typed using different classification systems. It can exist as an independent entity or can be associated with upper limb or visceral malformations. The aims of our study are therefore, a. to report the incidence of upper limb deformities in relation to the severity of tibial hemimelia classified by the Jones classification, b. incidence of tibial hemimelia as a part of a syndrome c. to report the overall incidence of the associated upper limb and visceral deformities. A retrospective study was done using radiographs and clinical notes. The severity of the tibia deformity was assessed using the Jones classification. The clinical notes were reviewed to report the additional findings in the upper limbs and the visceral organs. The study included 69 patients with tibial hemimelia aged from 10 months to 34 years. Twenty of them (28.9%) had bilateral involvement. Additional malformations were observed in 56 patients (81%) involving the upper and lower limb and visceral organs. In 11 patients (16%), tibial hemimelia occurred as part of a syndrome, most often being Gollop-Wolfgang complex. The incidence of malformations of the upper extremities was 15 (21.7%), four of which (26.6%) involved bilateral upper extremity malformation. The cleft hand was the most frequent malformation of the upper extremities, followed by hypoplasia or aplasia of the thumb and fingers. Jones type I tibial hemimelia is often associated with visceral and upper limb malformations. visceral anomalies are associated with syndromal forms of Tibiail hemimelia. Several forms of upper limb malformations with varying severity were associated with the disorder. Therefore, a holistic approach to the patient should be initiated soon after birth involving a paediatric, hand and visceral surgeon, to provide the best possible care. Level IV study, retrospective review of 69 patients with tibial hemimelia.

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.

Gollop-Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by tibial aplasia with femur bifurcation, ipsilateral bifurcation of the thigh bone, and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. The genetic basis of GWC, however, has remained elusive. We studied a three-generation family with four GWC-affected family members. An analysis of whole-genome sequencing results using a custom pipeline identified the WNT11 c.1015G>A missense variant associated with the phenotype. In silico modelling and an in vitro reporter assay further supported the link between the variant and GWC. This finding further contributes to mapping the genetic heterogeneity underlying split hand/foot malformations in general and in GWC specifically.