Disproportionate Short Stature in Nail Patella Syndrome: Clinical, Radiological, and Genetic Insights

This case report presents an 11-year-old male with disproportionate short stature as a rare manifestation of Nail Patella Syndrome (NPS). NPS is an autosomal dominant disorder caused by mutations in the LMX1B gene and is typically characterized by nail dysplasia, skeletal anomalies, and renal complications. The patient exhibited classical features of NPS, including dysmorphic traits, nail abnormalities, and radiological evidence of patellar aplasia and iliac horns. Genetic analysis identified a p.Arg221Ter pathogenic variant in LMX1B, confirming the diagnosis. Importantly, comprehensive evaluations excluded endocrine, renal, and systemic causes for short stature, suggesting it as a direct, albeit uncommon, feature of NPS. This case underscores the importance of genetic testing in diagnosing atypical presentations and highlights the need for tailored management, including regular monitoring for renal and ophthalmological complications. By documenting short stature in NPS, this report expands its clinical spectrum, contributing valuable insights to the understanding of this complex condition.Keywords: Chronic pancreatitis, complication, ductal rupture