{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:17:14Z","timestamp":1777803434308,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T00:00:00Z","timestamp":1385337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 ( ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss\u2014a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.<\/jats:p>","DOI":"10.1177\/0883073813509120","type":"journal-article","created":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T20:42:02Z","timestamp":1385498522000},"page":"NP168-NP170","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Mowat-Wilson Syndrome"],"prefix":"10.1177","volume":"29","author":[{"given":"Ebtesam Mohamed","family":"Abdalla","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louay Hassan","family":"Zayed","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Alexandria Faculty of Medicine, Alexandria, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,11,25]]},"reference":[{"key":"bibr1-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"bibr2-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"bibr3-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1503"},{"key":"bibr4-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.305"},{"key":"bibr5-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20053"},{"key":"bibr6-0883073813509120","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-42"},{"key":"bibr7-0883073813509120","unstructured":"Prevalence of rare diseases: Bibliographic data. 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