Login / Signup

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Xiao-Qing WeiJunying ZhangYouwen MeiEqiong LiQianling DaiXiaoli YangDan LuoBiao LiPing HuaJian CaiHua LaiDongfeng QiSha LaiMi QinYonghong Lin
Published in: International medical case reports journal (2024)
Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed.
Keyphrases
  • case report
  • gene expression
  • pregnant women
  • early onset
  • dna methylation
  • soft tissue
  • wound healing
  • copy number