Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
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Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 1. Age at which cases firstly seen by ophthalmologist in 10 percent at first, in 20 percent between two and four; in 30 percent betweeen five and 12; in 30 percent between 13 and 17; and in 10 percent after 17 years. 2. The most common lesion in a unilateral orbital and upper lid swelling with ptosis in 30 percent; with added swelling of temporal region and eyebrow in 30 percent; with added swelling of cheek in 30 percent. Only unilateral swelling at root of nose in four percent; eyebrow in two percent; or temporal atrophy in two percent. 3. Associated cafe au lait patches are found in 70 percent, and multiple neurofibromata of skin in 50 percent. 4. Malignant transformation to neurofibrosarcoma occurs in six percent. 5. X-ray changes of the bony orbit: absent in 60 percent; congenital since birth in 20 percent-the lesser and greater wings of the spehenoid bone are most commonly absent; and due to pressure of growing neurofibromatosis of orbit in 20 percent.
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PMID:Neurofibromatosis of lid and orbit in early childhood. 41 Sep 15