title: Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome.
abstract: A 5-year-old girl with Noonan-neurofibromatosis syndrome was diagnosed with bilateral superior oblique palsy. At surgery, the right superior oblique tendon was absent, and further exploration revealed abnormal tissue inserting into Tenon's capsule. Orbital imaging was not performed. Congenital absence of the superior oblique tendon was diagnosed. Although Noonan syndrome is known to have many ocular manifestations, absence of the superior oblique tendon has not been previously reported.
authors.affiliation: Department of Ophthalmology, North Shore-Long Island Jewish Health System, Great Neck, New York, USA.
authors.forename: Hema K
authors.initials: HK
authors.lastname: Sugumaran
authors.forename: John G
authors.initials: JG
authors.lastname: Pappas
authors.forename: Sylvia R
authors.initials: SR
authors.lastname: Kodsi
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D017253:Neurofibromatoses / Q000150:complications*; D009634:Noonan Syndrome / Q000150:complications*; D009801:Oculomotor Muscles / Q000002:abnormalities*; D015840:Oculomotor Nerve Diseases / Q000151:congenital*; D013285:Strabismus / Q000601:surgery; D013710:Tendons / Q000002:abnormalities*