{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T22:06:10Z","timestamp":1773180370598,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Soonchunhyang University Research Fund","award":["2025-0019"],"award-info":[{"award-number":["2025-0019"]}]},{"name":"Soonchunhyang University Research Fund","award":["P0018140"],"award-info":[{"award-number":["P0018140"]}]},{"name":"Ministry of Trade, Industry, and Energy (MOTIE), Korea","award":["2025-0019"],"award-info":[{"award-number":["2025-0019"]}]},{"name":"Ministry of Trade, Industry, and Energy (MOTIE), Korea","award":["P0018140"],"award-info":[{"award-number":["P0018140"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Background: The Gollop\u2013Wolfgang 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\u2013Wolfgang 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\u2013Wolfgang 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\u2013Wolfgang complex and to improve treatment strategies, particularly in refining surgical approaches and exploring new therapeutic options.<\/jats:p>","DOI":"10.3390\/pediatric17020047","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T10:04:56Z","timestamp":1744797896000},"page":"47","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Gollop\u2013Wolfgang Complex: A Case Report"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4872-2921","authenticated-orcid":false,"given":"Jun-Bum","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung-Ryul","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Seok","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hwa","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sai-Won","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4579-1008","authenticated-orcid":false,"given":"Woo-Jong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soon-Do","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3243-4618","authenticated-orcid":false,"given":"Dong-Woo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyeung-Min","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-0603","authenticated-orcid":false,"given":"Ki-Jin","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31, Suncheonhyang 6-gil, Dongnam-gu, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/ajmg.1320070313","article-title":"Familial occurrence of bifid femur and monodactylous ectrodactyly","volume":"7","author":"Gollop","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"453","DOI":"10.2106\/00004623-198466030-00021","article-title":"Complex congenital anomalies of the lower extremities: Femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature","volume":"66","author":"Wolfgang","year":"1984","journal-title":"J. Bone Jt. Surg. Am."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/ajmg.1320250623","article-title":"Gollop\u2013Wolfgang complex in a 3-month-old girl","volume":"25","author":"Lurie","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.a.30636","article-title":"Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop-Wolfgang complex","volume":"134","author":"Erickson","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2053","DOI":"10.1016\/j.radcr.2021.05.025","article-title":"A rare case of limb deficiency syndrome: Gollop WolfGang syndrome","volume":"16","author":"Hapani","year":"2021","journal-title":"Radiol. Case Rep."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/ajmg.10056","article-title":"Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance","volume":"104","author":"Witters","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1055\/s-0041-1736396","article-title":"Gollop-Wolfgang Complex: Clinical and Imaging Implications","volume":"31","author":"Vanderberg","year":"2021","journal-title":"Indian J. Radiol. Imaging"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Odrzywolski, A., T\u00fcys\u00fcz, B., Debeer, P., Souche, E., Voet, A., Dimitrov, B., Krzesi\u0144ska, P., Vermeesch, J.R., and Tylzanowski, P. (2024). Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11. Genes, 15.","DOI":"10.3390\/genes15010129"},{"key":"ref_9","first-page":"78","article-title":"P54A case of Gollop Wolfgang complex: Prenatal diagnosis and pregnancy termination","volume":"16","author":"Tekin","year":"2000","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"108223","DOI":"10.1016\/j.ijscr.2023.108223","article-title":"A case report of Gollop-Wolfgang complex in 12 years old boy","volume":"106","author":"Elewee","year":"2023","journal-title":"Int. J. Surg. Case Rep."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/cge.12219","article-title":"Split hand\/foot malformation with long-bone deficiency and BHLHA9 duplication: Report of 13 new families","volume":"85","author":"Petit","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/ejhg.2011.97","article-title":"17p13.3 microduplications are associated with split-hand\/foot malformation and long-bone deficiency (SHFLD)","volume":"19","author":"Armour","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/jmedgenet-2011-100409","article-title":"Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion","volume":"49","author":"Klopocki","year":"2012","journal-title":"J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-014-0125-5","article-title":"Japanese founder duplications\/triplications involving BHLHA9 are associated with split-hand\/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex","volume":"9","author":"Nagata","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1007\/s12098-016-2054-x","article-title":"Gollop Wolfgang Complex: Can it be a teratogenic condition?","volume":"83","author":"Biswas","year":"2016","journal-title":"Indian J. Pediatr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"19","DOI":"10.21699\/jns.v6i1.492","article-title":"Gollop-Wolfgang Complex","volume":"6","author":"Habou","year":"2017","journal-title":"J. Neonatal Surg."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O","article-title":"Agenesis of tibia with ectrodactyly\/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities","volume":"84","author":"Nir","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/uog.14686","article-title":"Prenatal diagnosis of Gollop-Wolfgang complex","volume":"45","author":"Caforio","year":"2015","journal-title":"Ultrasound Obs. Gynecol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.semcdb.2022.02.023","article-title":"Imaging fetal anatomy","volume":"131","author":"Dawood","year":"2022","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"167","DOI":"10.7863\/ultra.33.1.167","article-title":"Prenatally diagnosed fetal split-hand\/foot malformations often accompany a spectrum of anomalies","volume":"33","author":"Lu","year":"2014","journal-title":"J. Ultrasound Med."},{"key":"ref_22","first-page":"239","article-title":"Gollop-Wolfgang complex: An alternative to amputation","volume":"79","author":"Nlandu","year":"2013","journal-title":"Acta Orthop. Belg."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1097\/BPB.0b013e3283620640","article-title":"Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly)","volume":"22","author":"Wada","year":"2013","journal-title":"J. Pediatr. Orthop. B"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e0254","DOI":"10.2106\/JBJS.CC.18.00254","article-title":"Lower extremity surgical treatment to improve function in a patient with Gollop-Wolfgang complex: A case report","volume":"9","author":"Albright","year":"2019","journal-title":"JBJS Case Connect."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1007\/s11832-016-0785-x","article-title":"Tibial hemimelia: New classification and reconstructive options","volume":"10","author":"Paley","year":"2016","journal-title":"J. Child. Orthop."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.2106\/00004623-199911000-00002","article-title":"Syme amputation for the treatment of fibular deficiency. An evaluation of long-term physical and psychological functional status","volume":"81","author":"Birch","year":"1999","journal-title":"JBJS"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Chong, D.Y., and Paley, D. (2021). Deformity reconstruction surgery for tibial hemimelia. Children, 8.","DOI":"10.3390\/children8060461"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"278","DOI":"10.2106\/00004623-198971020-00016","article-title":"Congenital longitudinal deficiency of the tibia","volume":"71","author":"Schoenecker","year":"1989","journal-title":"JBJS"}],"container-title":["Pediatric Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2036-7503\/17\/2\/47\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:15:49Z","timestamp":1760030149000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2036-7503\/17\/2\/47"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,16]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["pediatric17020047"],"URL":"https:\/\/doi.org\/10.3390\/pediatric17020047","relation":{},"ISSN":["2036-7503"],"issn-type":[{"value":"2036-7503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,16]]}}}