title: Bilateral complete isolated cryptophthalmos: a case report.
abstract: Cryptophthalmos is a condition of congenital eyelid malformation most commonly accompanied by syndactyly, urogenital anomalies, and cognitive impairments as in Fraser syndrome. We report on a patient with characteristic features consistent with autosomal dominant bilateral complete isolated cryptophthalmos. This patient represents only the sixth documented case of bilateral complete isolated cryptophthalmos. Defining characteristics of this variety are discussed, including bilateral central dimpling over the globes, normal eyebrow growth, and the absence of cognitive impairment. We introduce phenotypic features that distinguish bilateral isolated cryptophthalmos from other forms and discuss its relatively favorable prognosis.
authors.affiliation: University of Western Ontario, London, Ontario, Canada.
authors.forename: Deena
authors.initials: D
authors.lastname: Egier
authors.forename: Robert
authors.initials: R
authors.lastname: Orton
authors.forename: Larry
authors.initials: L
authors.lastname: Allen
authors.forename: Victoria Mok
authors.initials: VM
authors.lastname: Siu
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002924:Ciliary Body / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000000981:diagnostic imaging*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009900:Optic Nerve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011379:Prognosis; D013577:Syndrome; D014463:Ultrasonography