title: Congenital ptosis and associated congenital malformations.
abstract: We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect. An inciting factor, acting during the second month of gestation, may affect the development of the eye, heart, and abdomen and may lead to congenital malformations. Although congenital ptosis rarely presents with ocular and systemic congenital malformations, ophthalmologists should be alert for the possibility of coexisting structural defects. Congenital ptosis is a muscular dystrophy demonstrated by various degrees of muscular degeneration and it may rarely be associated with ocular and systemic congenital malformation. Here, we report a case of congenital ptosis associated with more than one ocular and systemic malformation.
authors.affiliation: Department of Ophthalmology, Ankara, Turkey. kemalornek@hotmail.com
authors.forename: Nurgül
authors.initials: N
authors.lastname: Yilmaz
authors.forename: Banu M
authors.initials: BM
authors.lastname: Hoşal
authors.forename: Güler
authors.initials: G
authors.lastname: Zilelioglu
mesh_terms: D000015:Abnormalities, Multiple; D001763:Blepharoptosis / Q000151:congenital* / Q000601:surgery; D002648:Child; D005124:Eye Abnormalities / Q000150:complications* / Q000601:surgery; D005260:Female; D006801:Humans