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  • Title: Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
    Author: Wilkie AO, Taylor D, Scambler PJ, Baraitser M.
    Journal: Clin Dysmorphol; 1993 Apr; 2(2):114-9. PubMed ID: 8281271.
    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.
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