A 15-year-old boy with night blindness since the age of six with a history of growth retardation, poor scholastic performance and failure to attain secondary sexual characters. Retinal imaging showed the presence of pigmentary retinal degeneration and attenuated vessels suggesting retinitis pigmentosa. Physical examination revealed dysmorphic facies widened intercanthal distance, low set ears, depressed nasal bridge and a flattened occiput.
Also truncal obesity, shortened metacarpals/phalanges, polydactyly, and underdeveloped testes were noted. Source : Journal of Clinical and Diagnostic Research Can you spot the diagnosis? *This case is from docplexus editorial team for educative purpose only.
