Wilkie A O, Taylor D, Scambler P J, Baraitser M
Department of Paediatric Genetics, Hospital for Sick Children, London, UK.
Clin Dysmorphol. 1993 Apr;2(2):114-9.
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.
