Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0595921 (intraocular pressure)
11,750 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.
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PMID:Buphthalmos in neurofibromatosis: is it an expression of regional giantism? 40 73