title: Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.
abstract: Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency.
authors.affiliation: Department of Ophthalmology, St Thomas' Hospital, London, UK. aryanj@doctors.org.uk
authors.forename: Aryan
authors.initials: A
authors.lastname: Jogiya
authors.forename: Charles
authors.initials: C
authors.lastname: Sandy
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D005147:Facial Bones / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D012169:Retinal Vein / Q000002:abnormalities*; D012189:Retrospective Studies; D013577:Syndrome