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  • Title: Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.
    Author: Jogiya A, Sandy C.
    Journal: Ophthalmic Genet; 2005 Sep; 26(3):139-41. PubMed ID: 16272060.
    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.
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