Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
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.
Wilkie
A O
AO
Department of Paediatric Genetics, Hospital for Sick Children, London, UK.
Taylor
D
D
Scambler
P J
PJ
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002386:Cataract / Q000151:congenital*; D005145:Face / Q000002:abnormalities; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics*; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000235:genetics*; D013577:Syndrome