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Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
Li, Jinrong; Zhu, Tao; Yang, Sufei; Yang, Fan; Wu, Jinhui; Xiong, Fei.
Affiliation
  • Li, Jinrong; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
  • Zhu, Tao; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
  • Yang, Sufei; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
  • Yang, Fan; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
  • Wu, Jinhui; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
  • Xiong, Fei; Sichuan University. West China Second University Hospital. Department of Pediatrics. Chengdu. CN
Rev. bras. cir. cardiovasc ; Rev. bras. cir. cardiovasc;36(5): 700-702, Sept.-Oct. 2021. tab, graf
Article 在 En | LILACS | ID: biblio-1351652
Responsible library: BR1.1
ABSTRACT
Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
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全文: 1 索引: LILACS 主要主题: Hand Deformities, Congenital / Marfan Syndrome 研究类型: Diagnostic_studies 限制: Child, preschool / Female / Humans 语言: En 期刊: Rev. bras. cir. cardiovasc 期刊主题: CARDIOLOGIA / CIRURGIA GERAL 年: 2021 类型: Article
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全文: 1 索引: LILACS 主要主题: Hand Deformities, Congenital / Marfan Syndrome 研究类型: Diagnostic_studies 限制: Child, preschool / Female / Humans 语言: En 期刊: Rev. bras. cir. cardiovasc 期刊主题: CARDIOLOGIA / CIRURGIA GERAL 年: 2021 类型: Article