title: SHORT syndrome: a case with high hyperopia and astigmatism.
abstract: We describe a case of the SHORT syndrome and compare it with previously published cases. This six-year-old girl shows nearly all the typical manifestations reported in patients with the SHORT syndrome, including lipoatrophy, minor facial anomalies, Rieger anomaly, and short stature. However, she also suffers from high hyperopia and astigmatism associated with poor visual acuity.
authors.affiliation: Service d'Ophtalmologie, Université René Descartes, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Bonnel
authors.forename: P
authors.initials: P
authors.lastname: Dureau
authors.forename: M
authors.initials: M
authors.lastname: LeMerrer
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001251:Astigmatism / Q000175:diagnosis*; D002648:Child; D003315:Cornea / Q000002:abnormalities; D003318:Corneal Opacity / Q000175:diagnosis; D002658:Developmental Disabilities / Q000175:diagnosis; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis*; D007498:Iris / Q000002:abnormalities; D007593:Joint Instability / Q000175:diagnosis*; D013577:Syndrome; D014076:Tooth Diseases / Q000175:diagnosis*