Publications by authors named "Sami Engin"
Int J Surg Case Rep
May 2023
Article Synopsis
- Multiple epiphyseal dysplasia is a genetic condition affecting the growth of long bone epiphyses, manifesting in childhood or sometimes adulthood, and can be inherited in both autosomal dominant and recessive patterns.
- A case study presented a 7-year-old boy with joint pain and associated distinctive physical features, leading to a diagnosis of multiple epiphyseal dysplasia type 5 through genetic testing, which identified a de novo mutation.
- The condition is typically marked by specific skeletal changes and can lead to early onset osteoarthritis, emphasizing the need for early diagnosis and management for improved patient outcomes.
