TORTUOSITY OF THE RETINAL-VESSELS IN AARSKOG SYNDROME (FACIOGENITAL-DYSPLASIA)

Authors
PIZIO HF SCOTT MH RICHARD JM
Citation
Hf. Pizio et al., TORTUOSITY OF THE RETINAL-VESSELS IN AARSKOG SYNDROME (FACIOGENITAL-DYSPLASIA), Ophthalmic genetics, 15(1), 1994, pp. 37-40
Citations number
NO
Categorie Soggetti
Genetics & Heredity",Ophthalmology
Journal title
Ophthalmic genetics → ACNP
ISSN journal
13816810
Volume
15
Issue
1
Year of publication
1994
Pages
37 - 40
Database
ISI
SICI code
1381-6810(1994)15:1<37:TOTRIA>2.0.ZU;2-Y
Abstract
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dy smorphic facial features. Ophthalmic findings include hypertelorism, b lepharoptosis, strabismus, and ophthalmoplegia. The authors report a p atient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.