{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:14:14Z","timestamp":1792152854192,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2002,1,8]],"date-time":"2002-01-08T00:00:00Z","timestamp":1010448000000},"content-version":"vor","delay-in-days":38,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hydrocephalus\u2010stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation. X\u2010linked hydrocephalus is known to be due to mutations in the gene coding for the neural cell adhesion molecule L1 (L1\u2010CAM) and diagnosis is made by identification of a mutation in the L1\u2010CAM gene. Prenatal diagnosis of HSAS is usually suggested on ultrasound examination showing hydrocephalus in a male fetus associated with bilateral adducted thumbs. Mutation screening of the L1\u2010CAM gene is indicated when neuropathological examination shows hypoplasia of the corticospinal tract associated with aqueductal stenosis. We report here two cases of HSAS diagnosed within the same family by ultrasound examination in the first trimester of pregnancy when bilateral adducted thumbs were the only early ultrasound marker. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.184","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:30:43Z","timestamp":1030293043000},"page":"1129-1132","source":"Crossref","is-referenced-by-count":39,"title":["Prenatal diagnosis of hydrocephalus\u2010stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases"],"prefix":"10.1002","volume":"21","author":[{"given":"M. V.","family":"Senat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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