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Nailing septo-optic dysplasia
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A 3-year-old girl presented to us with short stature, loss of vision in both eyes and strabismus. She had a history of recurrent hypoglycaemia and seizures in the early neonatal period. Ophthalmological examination in infancy revealed bilateral cupping of optic disc and increased intraocular pressure (IOP) for which dorzolamide was started. Later she completely lost her vision, and dorzolamide was discontinued. Clinical evaluation revealed severe short stature and bilateral optic atrophy. Her developmental milestones (both motor and language) were delayed by 1–1.5 years. Her routine blood investigations were …