Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
Xiaoqing Wei,
Junying Zhang,
Youwen Mei
et al.
Abstract:Objective
We report a case of Carmi Syndrome in a neonate.
Aim
To share our lessons in diagnosis of the case of Carmi Syndrome.
Case Report
Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G
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