{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:06:06Z","timestamp":1787169966105,"version":"build-2736575974"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>\n                    Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. It is highly variable in clinical presentations, including a wide range of cognitive, behavioral, and psychiatric manifestations. Of all the possible manifestations, cognitive and behavioral problems are the greatest concern to parents and physicians. In this study, two fetuses were identified to have rhabdomyomas by prenatal ultrasound. Carefully inquired familial medical history revealed other symptoms of TSC such as skin lesions or psychiatric problems in family members in the two families. Both fetuses and family members with positive clinical symptoms were confirmed to carry a familial\n                    <jats:italic toggle=\"yes\">TSC2<\/jats:italic>\n                    variant. Our study indicates that fetal echocardiography is not just the evaluation of the fetal heart. When fetal cardiac rhabdomyomas are diagnosed, a full family medical history and clinical assessment for TSC in family members should be undertaken.\n                  <\/jats:p>","DOI":"10.4103\/jmu.jmu_35_22","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T12:58:14Z","timestamp":1695733094000},"page":"245-247","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Fetal Rhabdomyoma Leads to Family Diagnosis of Tuberous Sclerosis Complex"],"prefix":"10.4103","volume":"31","author":[{"given":"Yan-Dong","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Ultrasound, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical 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sclerosis in patients with cardiac rhabdomyoma","volume":"37","author":"Harding","year":"1990","journal-title":"Am J Med Genet"},{"key":"R11-20240830","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1177\/0883073807307093","article-title":"Intrafamilial phenotypic variability in tuberous sclerosis complex","volume":"22","author":"Lyczkowski","year":"2007","journal-title":"J Child Neurol"},{"key":"R12-20240830","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.tjog.2013.05.002","article-title":"Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy","volume":"52","author":"Chen","year":"2013","journal-title":"Taiwan J Obstet 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