{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:45:54Z","timestamp":1788871554492,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T00:00:00Z","timestamp":1027555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["Pr 131\/19-1"],"award-info":[{"award-number":["Pr 131\/19-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"BONFOR Program of the Medical Faculty of the University of Bonn"},{"name":"Richard-Winter-Stiftung"},{"DOI":"10.13039\/501100014276","name":"Doktor-Robert-Pfleger-Stiftung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100014276","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Nordrhein-Westfalen"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cant\u00fa syndrome consists of hypertrichosis, osteochondrodysplasia, and cardiomegaly, and has been reported in 18 patients to date. We report an infant with Cant\u00fa syndrome. In addition to typical findings, he had relatively mild radiological and cardiological manifestations. Previously undescribed findings included pyloric stenosis and elevated alkaline phosphatase levels. Brain scans showed bilateral calcification of the Arteriae thalamostriatae and widening of the outer liquor spaces and lateral ventricles. Because the propositus is the youngest patient reported to date, our findings refine the clinical spectrum of Cant\u00fa syndrome in neonates and young infants. The etiology and mode of inheritance of Cant\u00fa syndrome are unknown. Most cases are sporadic. Microdeletions have been discussed as a possible cause of Cant\u00fa syndrome. Recently, several syndromes with multiple congenital anomalies and mental retardation have been shown to be caused by subtelomeric chromosome aberrations. We excluded the presence of a cryptic subtelomeric chromosome anomaly in our patient by fluorescence in situ hybridization (FISH) screening with locus\u2010specific probes. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10560","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T07:56:23Z","timestamp":1033890983000},"page":"205-209","source":"Crossref","is-referenced-by-count":22,"title":["Further case of Cant\u00fa syndrome: Exclusion of cryptic subtelomeric chromosome 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