{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:50:02Z","timestamp":1791413402133,"version":"4.3.3"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,11]],"date-time":"2018-03-11T00:00:00Z","timestamp":1520726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dyssegmental dysplasia Silverman\u2010Handmaker (<jats:styled-content style=\"fixed-case\">DDSH<\/jats:styled-content>;<jats:styled-content style=\"fixed-case\"> MIM<\/jats:styled-content> 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene.\u00a0Less than forty cases are reported in the literature, of which only four were prenatally detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and radiological features compatible with a diagnosis of dyssegmental dysplasia. Molecular studies were undertaken to confirm the clinical diagnosis of <jats:styled-content style=\"fixed-case\">DDSH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular analysis results revealed a novel homozygous variant in the <jats:italic><jats:styled-content style=\"fixed-case\">HSPG<\/jats:styled-content>2<\/jats:italic> gene (<jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 142461), <jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>_005529.6(<jats:italic><jats:styled-content style=\"fixed-case\">HSPG<\/jats:styled-content>2<\/jats:italic>):c.4029\u00a0+\u00a01G&gt;A, consistent with a diagnosis of <jats:styled-content style=\"fixed-case\">DDSH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, the current report is only the seventh molecularly confirmed case of <jats:styled-content style=\"fixed-case\">DDSH<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.379","type":"journal-article","created":{"date-parts":[[2018,3,11]],"date-time":"2018-03-11T23:02:38Z","timestamp":1520809358000},"page":"452-456","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Dyssegmental dysplasia, Silverman\u2010Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-1082","authenticated-orcid":false,"given":"Shuaa","family":"Basalom","sequence":"first","affiliation":[{"name":"Department of Medical Genetics McGill University Health Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8740-4416","authenticated-orcid":false,"given":"Yannis","family":"Trakadis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics McGill University Health Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Shear","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jewish General Hospital Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel E.","family":"Azouz","sequence":"additional","affiliation":[{"name":"Department of Radiology McGill University Health Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8721-2991","authenticated-orcid":false,"given":"Isabelle","family":"De Bie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics McGill University Health Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/340390"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10229"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.07.004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2016.09.003"},{"key":"e_1_2_5_6_1","unstructured":"Kniffin C. 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