Bouzas E A, Krasnewich D, Koutroumanidis M, Papadimitriou A, Marini J C, Kaiser-Kupfer M I
National Eye Institute, NIH, Bethesda, MD 20892.
Ophthalmology. 1993 Mar;100(3):334-8. doi: 10.1016/s0161-6420(93)31645-3.
To describe the clinical features of Proteus syndrome, a rare recently recognized hamartoneoplastic malformation, with emphasis on the ocular findings.
Complete physical and ocular examination of two new patients with Proteus syndrome.
The two reported cases illustrate the wide clinical polymorphism of Proteus syndrome and the overlap of its clinical manifestations with those of other overgrowth syndromes. Both patients had periorbital exostoses and epibulbar tumors. The ocular findings are compared with those in the literature.
Considering the paucity of information in the ophthalmic literature, this article explores the role of the ophthalmologist in diagnosing this rare entity.
描述变形综合征的临床特征，这是一种最近才被认识的罕见错构瘤性畸形，重点关注眼部表现。
对两名新诊断的变形综合征患者进行全面的体格检查和眼部检查。
所报告的这两例病例说明了变形综合征广泛的临床多态性及其临床表现与其他过度生长综合征的重叠情况。两名患者均有眶周骨疣和眼球表面肿物。将眼部表现与文献中的情况进行了比较。
鉴于眼科文献中相关信息匮乏，本文探讨了眼科医生在诊断这一罕见病症中的作用。
