{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T00:09:15Z","timestamp":1758672555529,"version":"3.44.0"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"vor","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We present a rare case of a pediatric patient diagnosed with Gaucher disease, a lysosomal storage disorder, co-occurring with hallux duplication and syndactyly, congenital foot malformations. The patient exhibited extreme and uncommon manifestations of Gaucher disease, including massive splenomegaly and severe osteoporosis localized to the affected extremities, which complicated the treatment of the foot deformities. This case is notable due to the unique interaction between two genetically distinct conditions. We explore the clinical implications, treatment challenges, and potential genetic factors that may underlie the co-existence of these rare disorders. This case highlights the importance of comprehensive diagnosis and careful management when dealing with complex, overlapping conditions.<\/jats:p>","DOI":"10.1093\/jscr\/rjaf587","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T18:32:33Z","timestamp":1755023553000},"source":"Crossref","is-referenced-by-count":0,"title":["A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations"],"prefix":"10.1093","volume":"2025","author":[{"given":"Jos\u00e9 F","family":"Contreras","sequence":"first","affiliation":[{"name":"Research Medical Department, Panamerican University , 27 Avenida, Finca El Naranjo, 8-36, Zona 4, Mixco, Guatemala City 01057 ,","place":["Guatemala"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4177-6776","authenticated-orcid":false,"given":"Carlos","family":"Diaz Q","sequence":"additional","affiliation":[{"name":"Research Medical Department, Universidad Francisco Marroqu\u00edn , 13 av, Guatemala City 01011 ,","place":["Guatemala"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,8,6]]},"reference":[{"key":"2025092303112819300_ref1","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/ijms18020441","article-title":"A review of Gaucher disease pathophysiology, clinical presentation and treatments","volume":"18","author":"Stirnemann","year":"2017","journal-title":"Int J Mol Sci"},{"key":"2025092303112819300_ref2","first-page":"212","article-title":"Gaucher disease: molecular heterogeneity and phenotype-genotype correlations","volume":"45","author":"Theophilus","year":"1989","journal-title":"Am J Hum Genet"},{"key":"2025092303112819300_ref3","doi-asserted-by":"publisher","first-page":"85","DOI":"10.3390\/jcm12010085","article-title":"Global incidence and prevalence of Gaucher disease: a targeted literature review","volume":"12","author":"Castillon","year":"2022","journal-title":"J Clin Med"},{"key":"2025092303112819300_ref4","doi-asserted-by":"publisher","first-page":"447","DOI":"10.3389\/fgene.2018.00447","article-title":"Clinical genetics of polydactyly: an updated review","volume":"9","author":"Umair","year":"2018","journal-title":"Front Genet"},{"key":"2025092303112819300_ref5","doi-asserted-by":"publisher","first-page":"3070","DOI":"10.1111\/os.13528","article-title":"Outcomes of V-cut osteotomy on the first metatarsal head combined with fixation in mortise-shaped bone groove-plasty and akin osteotomy on the first toe for hallux valgus correction","volume":"14","author":"Jiao","year":"2022","journal-title":"Orthop Surg"},{"key":"2025092303112819300_ref6","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.fas.2021.03.024","article-title":"Piezoelectric tools versus traditional oscillating saw for distal linear osteotomy in hallux valgus correction: triple-blinded, randomized controlled study","volume":"28","author":"Mosca","year":"2022","journal-title":"Foot Ankle Surg"},{"key":"2025092303112819300_ref7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1007\/s00264-006-0178-8","article-title":"K-wire transfixation or distraction following the Keller-Brandes arthroplasty in hallux rigidus and hallux valgus?","volume":"31","author":"Reize","year":"2007","journal-title":"Int Orthop"},{"key":"2025092303112819300_ref8","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1186\/s12891-021-04972-5","article-title":"3rd generation MICA with the ``K-wires-first technique'' - a step-by-step instruction and preliminary results","volume":"23","author":"Toepfer","year":"2022","journal-title":"BMC Musculoskelet Disord"},{"key":"2025092303112819300_ref9","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.fas.2011.01.006","article-title":"Intraoperative imaging in hallux valgus surgery","volume":"18","author":"Elliot","year":"2012","journal-title":"Foot Ankle Surg"}],"container-title":["Journal of Surgical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2025\/8\/rjaf587\/63969906\/rjaf587.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2025\/8\/rjaf587\/63969906\/rjaf587.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T07:11:34Z","timestamp":1758611494000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jscr\/article\/doi\/10.1093\/jscr\/rjaf587\/8223499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8,3]]}},"URL":"https:\/\/doi.org\/10.1093\/jscr\/rjaf587","relation":{},"ISSN":["2042-8812"],"issn-type":[{"type":"electronic","value":"2042-8812"}],"subject":[],"published-other":{"date-parts":[[2025,8]]},"published":{"date-parts":[[2025,8]]},"article-number":"rjaf587"}}