{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:07:10Z","timestamp":1756382830119,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,8,7]]},"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the <jats:italic>IRF6<\/jats:italic> which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and\/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.<\/jats:p>","DOI":"10.1136\/bcr-2019-229938","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T08:06:55Z","timestamp":1567670815000},"page":"e229938","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature"],"prefix":"10.1136","volume":"12","author":[{"given":"Dilharan D","family":"Eliezer","sequence":"first","affiliation":[{"name":"Paediatric Surgery, John Hunter Children\u2019s Hospital, New Lambton Heights, New South Wales, Australia"},{"name":"Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia"},{"name":"Hunter Genetics, Waratah, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia M","family":"Turner","sequence":"additional","affiliation":[{"name":"Paediatric Medicine, John Hunter Children\u2019s Hospital, New Lambton Heights, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aniruddh","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Paediatric Surgery, John Hunter Children\u2019s Hospital, New Lambton Heights, New South Wales, Australia"},{"name":"Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia"},{"name":"Urology, Sydney Children\u2019s Hospital Network, Westmead, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,9,4]]},"reference":[{"key":"2025082802063141000_12.9.e229938.1","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1002\/ajmg.a.37791","article-title":"Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6","volume":"170","author":"Busche","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2025082802063141000_12.9.e229938.2","first-page":"191","article-title":"Genetic analysis in families with van der Woude syndrome","volume":"5","author":"Burdick","year":"1985","journal-title":"J Craniofac Genet Dev Biol"},{"key":"2025082802063141000_12.9.e229938.3","first-page":"PD03","article-title":"A case of vander woude syndrome with rare phenotypic expressions","volume":"8","author":"Tripath","year":"2014","journal-title":"Journal of Clinical and Diagnostic 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Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-229938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:06:38Z","timestamp":1756371998000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-229938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":8,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2019,9,4]]},"published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1136\/bcr-2019-229938"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-229938","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,9]]}}}