Raine syndrome

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

Abstract

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.

Keywords: Lethal; Raine syndrome; osteosclerosis.

Publication types

  • Case Reports