May 2009 in “South African Family Practice” The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
December 2025 in “American Journal of Case Reports” This case report highlights the importance of thorough examination in detecting ectopic thyroid glands in patients with borderline congenital hypothyroidism identified during newborn screening, as early intervention can prevent future complications and improve outcomes.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
This abstract is a navigation and policy notice for a website and does not contain any research findings.
11 citations
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October 2003 in “Postgraduate Medical Journal” This study described four cases of delayed diagnosis of Cushing’s syndrome, highlighting that increased clinical awareness and screening could reduce its associated morbidity and mortality.