Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
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.
Dean A. McGee Eye Institute, University of Oklahoma, Department of Ophthalmology, Oklahoma City 73104.
H F
HF
Pizio
M H
MH
Scott
J M
JM
Richard
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D005654:Fundus Oculi; D005837:Genitalia, Male / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012171:Retinal Vessels / Q000002:abnormalities* / Q000473:pathology*