{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T16:47:22Z","timestamp":1782492442196,"version":"3.54.5"},"reference-count":22,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Laurin-Sandrow syndrome is a very rare developmental disorder characterized by polysyndactyly of the hands and feet, as well as nasal anomalies. Often, there is associated ulnar and\/or fibular duplication. It is caused by microduplications on chromosome 7q36 that encompass the Sonic hedgehog limb enhancer region, the zone of polarizing activity regulator sequence (ZRS). Case Presentation: We describe here an individual with triplication encompassing the ZRS region. In addition to the other characteristic features of this condition, he has an unerupted single central maxillary incisor tooth. Conclusion: Laurin-Sandrow syndrome is caused by interrupted signaling of Sonic hedgehog pathway due to duplications encompassing its enhancer region (ZRS) on chromosome 7q36. ZRS plays a crucial role in limb development by regulating the Sonic hedgehog signaling. Nasal anomalies are well-recognized features of Laurin-Sandrow syndrome. Single median maxillary central incisor has not been described in Laurin-Sandrow syndrome, but it is associated with Sonic hedgehog signaling interruption. The presence of nasal anomalies and dental abnormality in Laurin-Sandrow syndrome may suggest a potential role of ZRS in craniofacial development beyond its known role in limb development.<\/jats:p>","DOI":"10.1159\/000552214","type":"journal-article","created":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:01:49Z","timestamp":1777392109000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["Novel Clinical and Genetic Findings in Laurin-Sandrow Syndrome: A Case Report"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5949-6421","authenticated-orcid":false,"given":"Pankaj","family":"Prasun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelyn J.","family":"Watkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32393"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000420"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010122)98:3%3c210::aid-ajmg1085%3e3.0.co;2-7"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000003668"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12352"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg180"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2017.00014"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06922-8"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2012.03.012"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21142"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/srep38500"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.02.014"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1459-0"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1%3c1::aid-ajmg1336%3e3.0.co;2-u"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20685"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222313060"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.70"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1918-8"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-12"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5451"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.780930"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/1573871"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000552214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T16:01:03Z","timestamp":1782489663000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000552214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,28]]},"references-count":22,"URL":"https:\/\/doi.org\/10.1159\/000552214","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32089254","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,28]]}}}