Pizio H F, Scott M H, Richard J M
Dean A. McGee Eye Institute, University of Oklahoma, Department of Ophthalmology, Oklahoma City 73104.
Ophthalmic Genet. 1994 Mar;15(1):37-40. doi: 10.3109/13816819409056909.
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia. The authors report a patient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.