Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
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先天性白内障、小眼球和间隔性心脏缺损两代人：一种新的综合症？
作者：
A. Wilkie;D. Taylor;P. Scambler;M. Baraitser
先天性白内障、小眼畸形和心脏病在胎儿风疹中的相关性是公认的，但遗传原因相对罕见，复发风险通常较低。我们描述了一名妇女与房间隔缺损，双侧先天性白内障，单侧小眼畸形和轻微畸形的功能，最初归因于不明感染在子宫内，其女儿有一个类似的星座的心脏，眼睛和面部畸形。这可能是一种新的显性遗传综合征。
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.