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R. Michels, A.M. Berrocal, C.A. McKeown; A new Ophthalmolgical Finding in Aplasia Cutis Congenita . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4074.
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Purpose: Report a new ophthalmologic finding in a 3–month–old female with aplasia cutis congenita. Methods: Evaluation included a comprehensive ophthalmologic examination with examination under anesthesia, ocular ultrasonography, MRI, pediatric and dermatologic consultations. Results:Family history was negative except for uncomplicated twin delivery at 32 weeks gestation. The fraternal twin sister was normal. Dermatologic evaluation revealed geographic areas of alopecia in the vertex region of the scalp with multiple atrophic, membrane–covered lesions, consistent with aplasia cutis congenita. Ophthalmologic evaluation revealed a left upper eyelid coloboma, eyelid skin tags and a left superotemporal limbal dermoid. Funduscopic evaluation was normal on the right, while the left eye showed an elevated peripapillary hypopigmented lesion with central pigment mottling. Ultrasonography was consistent with a choristoma of the choroid. Pediatric evaluation revealed no further abnormalities. Conclusions: To our knowledge, this is the first report of a choristoma of the choroid associated with aplasia cutis congenita.
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