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

Öz

This case report discusses a rare manifestation of Nail Patella Syndrome (NPS) in an 11-year-old male patient who presented with disproportionate short stature. NPS, an autosomal dominant disorder resulting from mutations in the LIM homeobox transcription factor 1-beta (LMX1B) gene, is typically characterized by nail dysplasia, patellar anomalies, and renal complications. The patient's clinical features included dysmorphic traits, nail abnormalities, and specific radiological findings, confirming the diagnosis through genetic analysis. The identified pathogenic variant (c.661C > T; p.Arg221Ter) emphasized the importance of genetic testing in NPS diagnosis. While NPS is commonly associated with renal and ophthalmological complications, this case highlights the significance of recognizing short stature as a potential feature. The report emphasizes comprehensive clinical evaluations, genetic testing, and vigilant monitoring for managing potential complications in individuals with NPS, contributing to a deeper understanding of this complex genetic disorder.

Anahtar Kelimeler

• Childhood anomalies
• Short Stature
• Nail-Patella Syndrome

Kaynakça

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