Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn.
A newborn infant with unilateral eyelid swelling, proptosis, and glaucoma is described. The diagnosis of congenital neurofibromatosis was made on the basis of a positive family history and by inspection of the patient. It is suggested that this clinical problem is more common at birth than generally recognized. Clinicians should be aware that congenital glaucoma secondary to neurofibromatosis is a distinct entity that can manifest itself in the newborn period.
D005260:Female; D005901:Glaucoma / Q000151:congenital* / Q000209:etiology; D006801:Humans; D006871:Hydrophthalmos / Q000209:etiology*; D007231:Infant, Newborn; D009456:Neurofibromatosis 1 / Q000150:complications / Q000151:congenital*; D009918:Orbital Neoplasms / Q000150:complications / Q000151:congenital*