Klippel- Trenaunay-Weber Syndrome (Parkes-Weber Syndrome; Angio-Osteo-Hypertrophy Syndrome) 6
General: Most frequently inherited as irregular dominant; however, reported to be recessive with pa 454b14e rent consanguinity; association of Klippel-Trenaunay-Weber syndrome and Sturge-Weber syndrome has been reported.
Ocular: Enophthalmos; unilateral hydrophthalmos; conjunctival telangiectasia; atypical iris coloboma; cataract; irregular and dilated retinal vessels; choroidal angiomas; exudative outer retinal vascular masses.
Clinical: Vascular nevi; varicose vessels; capillary angiomas; lymphangioma; arteriovenous aneurysm; hypertrophy of soft tissues and bones (local); phlebitis; thrombosis; syndactyly; polydactyly; early eruption of teeth; hemifacial hypertrophy.
Brod RD, et al. Unusual retinal and renal vascular lesions in the Klippel-Trenaunay-Weber syndrome. Retina 1992; 12:355-358.
Furukawa T, et al. Sturge-Weber and Klippel-Trenaunay syndrome with nevus Ota and Ito. Arch Dermatol 1970; 102: 640.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Klippel M, Trenaunay P. Naevus Variqueux Osteo-Hypertrophique. J Prat
Weber FP. Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907; 19:231.
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