Turner syndrome (turner-albright syndrome; gonadal dysgenesis; genital dwarfism syndrome; ullrich-turner syndrome; bonnevie-ullrich syndrome; pterygolymphangiectasia syndrome; ullrich-bonnevie syndrome)

General: Ovarian or gonadal agenesis; 45 chromosomes with an XO sex chromosome constitution; females; rare in males; onset in childhood.

Ocular: Exophthalmos; hypertelorism; ptosis; epicanthal folds; blue sclera; corneal nebulae; cataracts; conjunctival lymphoedema; keratoconus.

Clinical: Webbed neck (pterygium colli); diminished growth; mandibulofacial disproportion; cubitus valgus; masculine chest and trunk; late appearance of pubic and axillary hair; congenital deafness; mental retardation; coarctation of aorta.

Austin MW, et al. Conjunctival lymphoedema in Turner's syndrome. Eye 1992; 6[Part 3]:335-336.

Buckley CA, Cheng H. Intraocular melanoma, diabetes, and Turner's syndrome: presentation with proptosis. Br J Ophthalmol 1981; 65:460-463.

Khodadoust A, Paton D. Turner's syndrome in a male. Arch Ophthalmol 1967; 77:309.

Lessell S. Forbes AP. Eye Signs in Turner's syndrome. Arch Ophthalmol 1966;76:211.

Turner HH. Syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 1938; 23:566.

Wilson JD, Griffin JE. Disorders of sexual differentiation. In: Braunwald E, et al., eds. Harrisons Principles of Internal Medicine, 13th ed. New York: McGraw-Hill, 1994:2039-2051.