A Case of Mucopolysaccharidosis Presenting as Short Stature

The diagnostic process of short stature requires a disciplined, stepwise approach that moves beyond simple height velocity. It involves the scrutiny of body proportions, skeletal maturation, and subtle dysmorphic features. In many cases it is merely the most visible marker of a systemic disorder affecting connective tissue, neurological function, and visceral organ integrity.1 This report focuses on the diagnostic journey of a 14-year-old male presenting with short stature and a constellation of multisystemic symptoms. By integrating clinical history, examination findings and imaging evidence we present a compelling of Mucopolysaccharidosis.