{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:49:49Z","timestamp":1787755789349,"version":"build-2784847793"},"reference-count":37,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,3,20]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is a rare autosomal recessive disorder affecting the formation of the spine, characterized by a complete bilateral fusion of the ribs at the costovertebral junction, producing a \u201ccrablike\u201d appearance of the thorax. Despite being declared a core indication for a V-osteotomy vertical expandable prosthetic titanium rib (VEPTR) expansion thoracoplasty of the posterior thorax, the natural history of STD in untreated subjects remains poorly documented. In this study, we report radiographic and pulmonary function findings and Patient-Reported Outcomes Measurement Information System (PROMIS) and 24-Item Early Onset Scoliosis Questionnaire (EOSQ-24) scores for untreated adult subjects with STD to gain insights into the natural history.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We identified 11 skeletally mature, untreated subjects with STD. Findings on medical evaluation, demographics, radiographic parameters, pulmonary function, genetic testing results, PROMIS measures, and EOSQ-24 scores were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Five male and 6 female subjects (mean age, 32.3 years [range, 15 to 70 years]) with a confirmed STD diagnosis based on radiographs and genetic testing were evaluated. Mean body mass index (BMI) was 24.4 kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      (range, 18 to 38.9 kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      ), and mean thoracic height was 16 cm (range, 12 to 17 cm). Pulmonary function tests (PFTs) showed a mean forced vital capacity (FVC) of 22% of predicted, mean forced expiratory volume in 1 second (FEV1) of 24% of predicted, and FEV1\/FVC ratio of 107% of predicted. The mean PROMIS dyspnea score was 40 \u00b1 8 points (range, 27.7 to 52.1 points). The mean total EOSQ-24 score was 77.3 \u00b1 18 points (range, 43.9 to 93.2 points).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Our study characterizes the natural history of STD in untreated subjects. We confirmed the expected restrictive pattern in pulmonary function, but interestingly, our subjects exhibited better EOSQ scores compared with those reported in neuromuscular populations. PFT results and thoracic height did not correspond to PROMIS and EOSQ scores, questioning the use of those parameters as a surgical indication. We therefore suggest that the STD diagnosis as an absolute indication for VEPTR expansion thoracoplasty surgery be reconsidered.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Level of Evidence:<\/jats:title>\n                    <jats:p>\n                      Therapeutic\n                      <jats:underline>Level IV<\/jats:underline>\n                      . See Instructions for Authors for a complete description of levels of evidence.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.2106\/jbjs.23.00800","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T14:10:42Z","timestamp":1703167842000},"page":"501-507","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome)"],"prefix":"10.2106","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7254-6059","authenticated-orcid":false,"given":"Norman","family":"Ram\u00edrez","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Mayag\u00fcez Medical Center, Mayag\u00fcez, Puerto Rico"},{"name":"School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5147-2716","authenticated-orcid":false,"given":"Carlos","family":"Monroig-Rivera","sequence":"additional","affiliation":[{"name":"School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico"},{"name":"Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo","family":"De Jes\u00fas-Rojas","sequence":"additional","affiliation":[{"name":"School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico"},{"name":"Department of Pediatrics and Basic Science, Ponce Health Science University, Ponce, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8424-2557","authenticated-orcid":false,"given":"Edwin","family":"Rosado","sequence":"additional","affiliation":[{"name":"Atlantis Medical Center, Barceloneta, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3928-4824","authenticated-orcid":false,"given":"Norma J.","family":"Arciniegas Medina","sequence":"additional","affiliation":[{"name":"School of Medicine, Ponce Health Sciences University, Ponce, Puerto Rico"},{"name":"Department of Pediatrics, Mayag\u00fcez Medical Center, Mayag\u00fcez, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-5397","authenticated-orcid":false,"given":"Alberto Santiago","family":"Cornier","sequence":"additional","affiliation":[{"name":"Department of Genetics, San Jorge Children\u2019s and Women Hospital, San Juan, Puerto Rico"},{"name":"Department of Pediatrics, Universidad Central del Caribe School of Medicine, Bayamon, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8010-540X","authenticated-orcid":false,"given":"Frances","family":"V\u00e9lez-Bartolomei","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-1981","authenticated-orcid":false,"given":"Charles E.","family":"Johnston","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, 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