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Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in proteus syndrome

✍ Scribed by Gilbert-Barness, Enid ;Cohen, M. Michael ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 739 KB
Volume: 93
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000731)93:3<234::aid-ajmg15>3.0.co;2-9

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✦ Synopsis

Because clinical evidence suggests that Proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with Proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular,

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