{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:32:41Z","timestamp":1787776361151,"version":"build-2784847793"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T00:00:00Z","timestamp":1724889600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Stuve\u2013Wiedemann syndrome (SWS) is a rare skeletal abnormality with extensive postnatal literature but limited prenatal studies. Our group had published a diagnostic algorithm to identify prenatal cases, yet, the challenge continues, especially when there is no family history of a similar condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We retrospectively analyzed our experience of prenatal diagnosis of SWS over an 8-year period with ethical approval. Literature review of articles published until July 30, 2023 from PubMed, GeneReviews, and Genetics Home Reference using search parameters, \u201cSWS,\u201d \u201cprenatal,\u201d and \u201cultrasound\u201d was conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Three cases (diagnosed during the routine anomaly scan) were identified from our institutional review, and 11 cases from six studies from the literature review. Eight out of these 11 cases had a positive family history. SWS was recognized without positive family history in two patients from literature review and the three patients in the current study. The consistent findings that helped in reaching the suspicion were the typical pattern of long bone involvement (bowing of tibia &gt; femora, relative sparing of the fibula and upper limb bones, normal scapulae, and clavicles), and the presence of camptodactyly. Despite the lack of sonographic evidence of narrow thorax, SWS is highly lethal, due to dysautonomic symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>In SWS, accurate ultrasound diagnosis is crucial to provide prognostic information as the lethality does not depend on pulmonary hypoplasia. Examination of the hands looking for camptodactyly is crucial in skeletal dysplasias to distinguish SWS from other bent bone osteochondrodysplasias, namely, campomelic and kyphomelic dysplasias. This prenatal distinction has important implications for prognosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/jmu.jmu_177_23","type":"journal-article","created":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T14:11:23Z","timestamp":1725027083000},"page":"142-147","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve\u2013wiedemann Syndrome: Retrospective Case Series and Prenatal Review"],"prefix":"10.4103","volume":"33","author":[{"given":"Muzibunnisa A","family":"Begam","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine, Mediclinic Airport Road Hospital, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Leeds School of Medicine, University of Leeds, Leeds, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fares","family":"Chedid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kanad Hospital, Al Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisham","family":"Mirghani","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine, NMC Royal Hospital, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,8,29]]},"reference":[{"key":"R1-20250526","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1007\/s002470050464","article-title":"Presentation of six cases of St\u00fcve-Wiedemann syndrome","volume":"28","author":"Cormier-Daire","year":"1998","journal-title":"Pediatr Radiol"},{"key":"R2-20250526","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S0140-6736(71)92666-3","article-title":"Congenital bowing of the long bones in two sisters","volume":"2","author":"St\u00fcve","year":"1971","journal-title":"Lancet"},{"key":"R3-20250526","first-page":"407","article-title":"International classification of osteochondrodysplasias. The international working group on constitutional diseases of bone","volume":"151","author":"Spranger","year":"1992","journal-title":"Eur J Pediatr"},{"key":"R4-20250526","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/372525a0","article-title":"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene","volume":"372","author":"Foster","year":"1994","journal-title":"Nature"},{"key":"R5-20250526","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1086\/381715","article-title":"Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann\/Schwartz-Jampel type 2 syndrome","volume":"74","author":"Dagoneau","year":"2004","journal-title":"Am J Hum Genet"},{"key":"R6-20250526","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M","article-title":"Schwartz-Jampel syndrome type 2 and St\u00fcve-Wiedemann syndrome:A case for \u201clumping\u201c","volume":"78","author":"Superti-Furga","year":"1998","journal-title":"Am J Med Genet"},{"key":"R7-20250526","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.1399-0004.2012.01852.x","article-title":"St\u00fcve-Wiedemann syndrome and related bent bone dysplasias","volume":"82","author":"Akawi","year":"2012","journal-title":"Clin Genet"},{"key":"R8-20250526","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1159\/000444729","article-title":"St\u00fcve-Wiedemann syndrome:Update on clinical and genetic aspects","volume":"7","author":"Romeo Bertola","year":"2016","journal-title":"Mol Syndromol"},{"key":"R9-20250526","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/pd.1970090208","article-title":"Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation","volume":"9","author":"Hunziker","year":"1989","journal-title":"Prenat Diagn"},{"key":"R10-20250526","first-page":"269","article-title":"Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome","volume":"22","author":"Philippe","year":"1993","journal-title":"J Gynecol Obstet Biol Reprod (Paris)"},{"key":"R11-20250526","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1097\/00019605-199810000-00004","article-title":"Congenital bowing of the long bones in two fetuses presenting features of St\u00fcve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2","volume":"7","author":"Sigaudy","year":"1998","journal-title":"Clin Dysmorphol"},{"key":"R12-20250526","first-page":"91","article-title":"Ultrasound findings of a rare congenital skeletal dysplasia:St\u00fcve-Wiedemann syndrome","volume":"59","author":"Rugolo","year":"2007","journal-title":"Minerva Ginecol"},{"key":"R13-20250526","first-page":"35","article-title":"Case report of prenatal diagnosis of St\u00fcve-Wiedemann syndrome in a woman with another child affected too","volume":"7","author":"Catavorello","year":"2013","journal-title":"J Prenat Med"},{"key":"R14-20250526","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/uog.8967","article-title":"Stuve-Wiedemann syndrome:A skeletal dysplasia characterized by bowed long bones","volume":"38","author":"Begam","year":"2011","journal-title":"Ultrasound Obstet Gynecol"},{"key":"R16-20250526","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1186\/s13023-022-02323-8","article-title":"Clinical overview and outcome of the Stuve-Wiedemann syndrome:A systematic review","volume":"17","author":"Warnier","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"R17-20250526","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/0002-9378(93)90641-U","article-title":"Prenatal diagnosis of the skeletal dysplasias","volume":"169","author":"Sharony","year":"1993","journal-title":"Am J Obstet Gynecol"},{"key":"R18-20250526","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1159\/000059376","article-title":"Congenital bowing of long bones:Prenatal ultrasound findings and diagnostic dilemmas","volume":"17","author":"Farra","year":"2002","journal-title":"Fetal Diagn Ther"},{"key":"R19-20250526","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1148\/radiology.212.3.r99au04847","article-title":"Kyphomelic dysplasia:Clinical and radiologic long-term follow-up of one case and review of the literature","volume":"212","author":"Pallotta","year":"1999","journal-title":"Radiology"},{"key":"R20-20250526","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1136\/jmg.32.6.415","article-title":"A clinical and genetic study of campomelic dysplasia","volume":"32","author":"Mansour","year":"1995","journal-title":"J Med Genet"},{"key":"R21-20250526","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s002470050166","article-title":"The scapula as a window to the diagnosis of skeletal dysplasias","volume":"27","author":"Mortier","year":"1997","journal-title":"Pediatr Radiol"},{"key":"R22-20250526","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/s00247-016-3725-5","article-title":"Evaluating skeletal dysplasias on prenatal ultrasound:An emphasis on predicting lethality","volume":"47","author":"Milks","year":"2017","journal-title":"Pediatr Radiol"},{"key":"R24-20250526","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1056\/NEJMsa013234","article-title":"Screening extended families for genetic hemoglobin disorders in Pakistan","volume":"347","author":"Ahmed","year":"2002","journal-title":"N Engl J Med"}],"container-title":["Journal of Medical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_177_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:07:17Z","timestamp":1787774837000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_177_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,29]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/jmu.jmu_177_23","relation":{},"ISSN":["0929-6441","2212-1552"],"issn-type":[{"value":"0929-6441","type":"print"},{"value":"2212-1552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,29]]},"assertion":[{"value":"2023-12-26","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-16","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}