title: Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
abstract: The association of congenital cataracts, microphthalmia and heart disease is well recognized in fetal rubella, but genetic causes are comparatively rare and recurrence risks are usually low. We describe a woman with an atrial septal defect, bilateral congenital cataracts, unilateral microphthalmia and minor dysmorphic features, originally attributed to an unidentified infection in utero, whose daughter has a similar constellation of heart, eye and facial abnormalities. This may represent a new dominantly inherited syndrome.
authors.affiliation: Department of Paediatric Genetics, Hospital for Sick Children, London, UK.
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: D
authors.initials: D
authors.lastname: Taylor
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002386:Cataract / Q000151:congenital*; D005145:Face / Q000002:abnormalities; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics*; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000235:genetics*; D013577:Syndrome