| Abstrakt: |
A recent report from the Medical University of Warsaw discusses the characteristics of Noonan Syndrome type 13 (NS13), a rare genetic disorder caused by mutations in the MAPK1 gene. NS13 is characterized by various physical and developmental abnormalities, including short stature, delayed psychomotor development, attention deficit and hyperactivity, and distinct facial features. The report describes a new case of NS13 in a 6-year-old boy who exhibited similar dysmorphic features and neurodevelopmental delay but did not have short stature. The identification of this milder form of NS13 emphasizes the importance of early diagnosis and targeted management for improved patient outcomes. [Extracted from the article] |
