{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T16:57:19Z","timestamp":1757609839042,"version":"3.44.0"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>X\u2010linked hereditary hydrocephalus (XLH) is a congenital form of hydrocephalus caused by variants in the L1CAM gene on the X chromosome. Diagnosis is often made prenatally via ultrasound or magnetic resonance imaging (MRI), but specific features such as adducted thumbs are subtle and easily missed. We report a case in which prenatal MRI at 34\u2009weeks gestation revealed fetal hydrocephalus and an adducted thumb, suggestive of XLH. Postnatal genetic testing confirmed a previously unreported frameshift variant in the L1CAM gene, c.2248dup (p.Tyr750LeufsTer36). The male infant required neurosurgical intervention and was also diagnosed with Hirschsprung's disease. Genetic testing confirmed that the mother was a heterozygous carrier. In a subsequent pregnancy, non\u2010invasive prenatal testing (NIPT) predicted a female fetus with no hydrocephalus. This case highlights the importance of thorough imaging and genetic evaluation in suspected XLH, especially given the increasing discovery of novel pathogenic variants.<\/jats:p>","DOI":"10.1002\/ccr3.70792","type":"journal-article","created":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T03:41:02Z","timestamp":1755229262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["X\u2010Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel <scp>L1CAM<\/scp> Variant: A Case Report"],"prefix":"10.1002","volume":"13","author":[{"given":"Ryosuke","family":"Horiuchi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"},{"name":"Department of Clinical Genetics Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0030-8078","authenticated-orcid":false,"given":"Hiroshi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chinami","family":"Asai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumika","family":"Hamaguchi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Takaishi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"Fujiwara","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukari","family":"Atsumi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo Japan"},{"name":"Department of Clinical Genetics Hyogo Prefectural Amagasaki General Medical Center  Amagasaki Hyogo 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