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Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
A O Wilkie1, D Taylor, P J Scambler
1Department of Paediatric Genetics, Hospital for Sick Children, London, UK.
Clinical Dysmorphology
|April 1, 1993
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.