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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.
  • 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 ; 36(5): 700-702, Sept.-Oct. 2021. tab, graf
Article in English | LILACS | ID: biblio-1351652
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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Hand Deformities, Congenital / Marfan Syndrome Type of study: Diagnostic study Limits: Child, preschool / Female / Humans Language: English Journal: Rev. bras. cir. cardiovasc Journal subject: Cardiology / General Surgery Year: 2021 Type: Article Affiliation country: China Institution/Affiliation country: Sichuan University/CN

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Full text: Available Index: LILACS (Americas) Main subject: Hand Deformities, Congenital / Marfan Syndrome Type of study: Diagnostic study Limits: Child, preschool / Female / Humans Language: English Journal: Rev. bras. cir. cardiovasc Journal subject: Cardiology / General Surgery Year: 2021 Type: Article Affiliation country: China Institution/Affiliation country: Sichuan University/CN