雷恩综合征。

Vishwanath B, Srinivasa K, Shankar M Veera

Department of Pediatrics, Vijayanagar Institute of Medical Sciences, Cantonment, Bellary, Karnataka, India.

Indian J Hum Genet. 2014 Jan;20(1):72-4. doi: 10.4103/0971-6866.132761.

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation.

雷恩综合征是一种罕见的遗传性疾病，具有眼球突出、后鼻孔闭锁或狭窄、骨硬化和脑钙化等特征性表现。大多数患有这种疾病的婴儿在出生后立即死亡。我们报告了一名就诊时7周大的婴儿。