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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.


Journal article


Clin Dysmorphol

Publication Date





114 - 119


Abnormalities, Multiple, Adult, Cataract, Face, Female, Heart Septal Defects, Humans, Infant, Microphthalmos, Syndrome