Clinical Insights and Diagnostic Clues in Farber’s Disease: Unveiling the Path to Diagnosis”
Dr. Venumadhav, Dr.sheela (Paed Genetics) Dr. C. JayakumarDepartment of Pediatrics, Amrita Institute of Medical Sciences A six-year-old male, the first child of non-consanguineous parents, presented to the outpatient department with a history of involuntary shock-like jerks, which were notably absent during sleep. The parents also reported the presence of abnormal swellings over the bony prominences Read More …