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Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.
Ophthalmic Genet. 2005 Sep; 26(3):139-41.OG

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+Show Affiliations

Department of Ophthalmology, St Thomas' Hospital, London, UK. aryanj@doctors.org.ukNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16272060

Citation

Jogiya, Aryan, and Charles Sandy. "Mild Optic Nerve Hypoplasia With Retinal Venous Tortuosity in Aarskog (facial-digital-genital) Syndrome." Ophthalmic Genetics, vol. 26, no. 3, 2005, pp. 139-41.
Jogiya A, Sandy C. Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome. Ophthalmic Genet. 2005;26(3):139-41.
Jogiya, A., & Sandy, C. (2005). Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome. Ophthalmic Genetics, 26(3), 139-41.
Jogiya A, Sandy C. Mild Optic Nerve Hypoplasia With Retinal Venous Tortuosity in Aarskog (facial-digital-genital) Syndrome. Ophthalmic Genet. 2005;26(3):139-41. PubMed PMID: 16272060.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome. AU - Jogiya,Aryan, AU - Sandy,Charles, PY - 2005/11/8/pubmed PY - 2005/12/13/medline PY - 2005/11/8/entrez SP - 139 EP - 41 JF - Ophthalmic genetics JO - Ophthalmic Genet. VL - 26 IS - 3 N2 - 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. SN - 1381-6810 UR - https://www.unboundmedicine.com/medline/citation/16272060/Mild_optic_nerve_hypoplasia_with_retinal_venous_tortuosity_in_aarskog__facial_digital_genital__syndrome_ L2 - http://www.tandfonline.com/doi/full/10.1080/13816810500229025 DB - PRIME DP - Unbound Medicine ER -