{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:45:25Z","timestamp":1787755525189,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:title>Case:<\/jats:title>\n                  <jats:p>We report a successful surgical management of a teratologic hip dislocation in a 2.5-year-old girl child with cutis laxa and a positive PYCR1 gene mutation. She had characteristic facial features including triangular face with frontal bossing. Moreover, she had wrinkly skin on her limbs. At 2-year follow-up, she became an independent ambulator with stable hip joint and mild limping.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The surgical principles of treating a high riding hip dislocation in patients with positive PYCR1 gene mutation should be comprehensive including open reduction, pelvic osteotomy, and femoral shortening osteotomy with derotation. Meticulous capsulorrhaphy optimizes the development and stability of the hip joint.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2106\/jbjs.cc.24.00308","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T14:01:13Z","timestamp":1735653673000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Successful Reduction of a Dislocated Hip Joint in a Patient With Cutis Laxa From a PYCR1 Mutation"],"prefix":"10.2106","volume":"14","author":[{"given":"O.Q.","family":"Samarah","sequence":"first","affiliation":[{"name":"Department of Special Surgery, School of Medicine, University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.H.","family":"Abu Rumman","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.J.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.K.","family":"Hamed","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.M.","family":"Obeidat","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Jordan, Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,10]]},"reference":[{"issue":"9","key":"bib1-20241231","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1038\/ng.413","article-title":"Mutations in PYCR1 cause cutis laxa with progeroid features","volume":"41","author":"Reversade","year":"2009","journal-title":"Nat Genet."},{"issue":"5","key":"bib2-20241231","first-page":"842-e1","article-title":"Cutis laxa: a review","volume":"6","author":"Berk","year":"2012","journal-title":"J Am Acad Dermatol."},{"issue":"1","key":"bib3-20241231","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.jdermsci.2017.04.010","article-title":"Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing","volume":"88","author":"Ritelli","year":"2017","journal-title":"J Dermatol Sci."},{"issue":"3","key":"bib4-20241231","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ymgme.2013.08.009","article-title":"Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa","volume":"110","author":"Dimopoulou","year":"2013","journal-title":"Mol Genet Metab."},{"key":"bib6-20241231","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/978-94-007-7893-1_11","article-title":"Cutis laxa","volume":"802","author":"Mohamed","year":"2014","journal-title":"Adv Exp Med Biol."},{"issue":"3","key":"bib7-20241231","doi-asserted-by":"crossref","first-page":"635","DOI":"10.3390\/ijms18030635","article-title":"Discriminative features in three autosomal recessive cutis laxa syndromes: cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica","volume":"18","author":"Kariminejad","year":"2017","journal-title":"Int J Mol Sci."},{"issue":"9","key":"bib8-20241231","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1136\/jmg.24.9.556","article-title":"Congenital cutis laxa with retardation of growth and development","volume":"24","author":"Patton","year":"1987","journal-title":"J Med Genet."},{"issue":"6","key":"bib9-20241231","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.ejmg.2013.03.006","article-title":"Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2","volume":"56","author":"Scherrer","year":"2013","journal-title":"Eur J Med Genet."},{"issue":"5","key":"bib10-20241231","doi-asserted-by":"crossref","first-page":"521","DOI":"10.4103\/0019-5154.164434","article-title":"The diagnostic dilemma of cutis laxa: a report of two cases with genotypic dissimilarity","volume":"60","author":"Goyal","year":"2015","journal-title":"Indian J Dermatol."},{"issue":"2","key":"bib11-20241231","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2106\/JBJS.CC.22.00751","article-title":"Surgical management of hip dislocation in a patient with SCARF syndrome","volume":"13","author":"Chandankere","year":"2023","journal-title":"JBJS Case Connector."},{"issue":"5","key":"bib12-20241231","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1097\/01202412-200509000-00004","article-title":"The surgical treatment of teratologic dislocation of the hip","volume":"14","author":"LeBel","year":"2005","journal-title":"J Pediatr Orthop B."},{"issue":"2","key":"bib13-20241231","first-page":"246","article-title":"Femur fractures in institutionalized patients after hip spica immobilization","volume":"13","author":"Sturm","year":"1993","journal-title":"J Pediatr Orthop."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.24.00308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:44:27Z","timestamp":1787751867000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.24.00308"}},"subtitle":["Case Report"],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.24.00308","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10]]}}}