J Korean Pediatr Soc.
2003 Jan;46(1):91-94.
A Case of Raine Syndrome
- Affiliations
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- 1Department of Pediatrics, School of Medicine, The Catholic University of Daegu, Korea. wootykim@cataegu.ac.kr
- 2Department of Biochemistry, School of Medicine, Kyungpook National University, Daegu, Korea.
Abstract
- Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial calcifications in the particularly periventricular area. It undergoes an autosomal recessive inheritance. Twelve cases of Raine syndrome have been reported in the literature. However, a case of Raine syndrome in Korea has not been reported yet. Therefore, we describe a female newborn with Raine syndrome with a brief review of the literatures.
