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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.

Type

Journal article

Journal

Clin Dysmorphol

Publication Date

04/1993

Volume

2

Pages

114 - 119

Keywords

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