{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T01:10:15Z","timestamp":1778721015445,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T00:00:00Z","timestamp":1415318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Kleefstra syndrome arises from haploinsufficiency of <jats:italic>EHMT1<\/jats:italic> caused by either microdeletions at 9q34.3 or intragenic mutations. Patients with Kleefstra syndrome have multisystem involvement including intellectual disability, hypotonia, and characteristic facial features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on the severe neonatal presentation of the first case of Kleefstra syndrome associated with hypoplastic left heart syndrome and multicystic renal disease in a patient with a 9q34.3 microdeletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Array\u2010CGH analysis revealed a 2.1 Mb deletion at 9q34.3, including <jats:italic>EHMT1<\/jats:italic> and <jats:italic>NOTCH1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Kleefstra syndrome is a multisystem disorder with a high frequency of congenital heart disease and less frequently, renal defects. Mortality has rarely been documented, particularly in infancy. Based on the present case and the extant literature, a routine echocardiogram and renal ultrasound should be ordered in all cases of Kleefstra syndrome. The cardiac changes seen in this patient could be the result of the haploinsufficiency of <jats:italic>EHMT1<\/jats:italic>, <jats:italic>NOTCH1<\/jats:italic>, or their combined effect. Birth Defects Research (Part A), 2014. \u00a9 2014 Wiley Periodicals, Inc. Birth Defects Research (Part A) 100:985\u2013990, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23324","type":"journal-article","created":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T09:14:10Z","timestamp":1415351650000},"page":"985-990","source":"Crossref","is-referenced-by-count":16,"title":["Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion"],"prefix":"10.1002","volume":"100","author":[{"given":"Candace L.","family":"Campbell","sequence":"first","affiliation":[{"name":"University of Arkansas for Medical Sciences Department of Pediatrics Little Rock Arkansas"},{"name":"University of Arkansas for Medical Sciences Division of Cardiology Little Rock Arkansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"II","given":"R. 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