Misdiagnosis due to Physical Characteristics

Brittan P Richey


Although scientists and doctors stand apart by their capability of diagnosis and their overabundance of knowledge, use of technological developments is vital to an individual in the medical-field, as it additionally clarifies to reduce error in the genetic testing and diagnosis. A 24-year-old Japanese woman was cross-examined in her later years, to find that she was misdiagnosed at birth due to phenotypic generalities of her syndrome. Although she was originally diagnosed with CHARGE syndrome, a genetic screening in her 23rd year apprehended her true diagnosis of Kabuki syndrome. Although the physical abnormalities of the mutual conditions are analogous, the genetic mutation resides within different chromosomes in the human body. The improvement of genetic testing and technological advancements should not encourage but oppose complacency of doctors and scientists. Specifically, this article proposes and requires the importance in balance of technology and brain power in contemporary society.


Full Text:



  • There are currently no refbacks.