Lachhab Abderrahim, Maroc Mohamed, Benghali Yassine, El Oumri Ahmed Amine
Faculty of Medicine, Mohammed First University, Oujda, MAR.
Physical Medicine and Rehabilitation, Mohammed VI University Hospital, Oujda, MAR.
Cureus. 2025 Jul 14;17(7):e87871. doi: 10.7759/cureus.87871. eCollection 2025 Jul.
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.
戈洛普 - 沃尔夫冈复合体(GWC)是一种罕见的先天性肌肉骨骼异常,其特征为股骨远端重复和胫骨发育不全。虽然它常与其他全身缺陷(如VACTERL综合征中的缺陷)相关联,但我们的病例独特地表现为该复合体的孤立症状。GWC的确切遗传原因尚未完全明确,这凸显了我们在肢体发育障碍知识方面的空白。治疗通常涉及早期手术干预,如膝关节离断和假肢装配,不过保肢手术也得到认可。尽管GWC在全球范围内都很罕见(报告病例少于200例),但在非洲很少有记录。本报告详细介绍了一例来自北非的GWC病例,为该人群中其表现和管理提供了见解。我们报告一名14岁的摩洛哥男性,是三个兄弟姐妹中的老三,自出生以来右下肢就有明显畸形。临床上,由于可触及的股骨分叉,他表现出典型的Y形大腿远端、固定的膝关节屈曲畸形以及明显的胫骨缺失。X线片证实右股骨远端分叉和右胫骨半肢畸形(琼斯Ia型)。值得注意的是,我们的患者没有相关的上肢、心脏、神经或肾脏畸形,也没有并指(趾)畸形或桡骨缺失,这使他的表现与许多报告病例不同。由于缺乏产前超声随访,未进行产前诊断。尽管对手术选择进行了全面咨询,包括截肢以装配假肢,但患者因担心术后疼痛和并发症而拒绝干预。因此,我们启动了一项保守管理计划,重点是康复、使用拐杖、单足平衡练习和步态训练,以优化他的功能独立性。本病例报告强调了GWC的诊断挑战,并突出了患者自主性在治疗决策中的关键作用,特别是当传统手术方法遭到患者拒绝时。我们的经验表明,即使在复杂的骨骼异常情况下,专门的非手术康复途径也可能是一种可行的选择。这个独特的病例提供了宝贵的临床数据,扩展了全球对GWC有限的认识,并强调了对罕见疾病进行全面记录以完善个性化管理策略的必要性。