All issues > Volume 46(1); 2003

Case Report

J Korean Pediatr Soc. 2003;46(1):91-94. Published online January 15, 2003.

A Case of Raine Syndrome

Hye Jin HJ Park¹, Jeong Jin JJ Lee¹, Jeong Sik JS Seo¹, Hyo Jin HJ Kim², Je Yong JY Choi², Jun Hwa JH Lee¹, Un Seok US Nho¹, Hai Lee HL Chung¹, Woo Taek WT Kim¹

¹Department of Pediatrics, School of Medicine, The Catholic University of Daegu, Korea
²Department of Biochemistry, School of Medicine, Kyungpook National University, Daegu, Korea

Correspondence Woo Taek WT Kim ,Email: wootykim@cataegu.ac.kr

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.

Keywords :Raine Syndrome, Craniofacial anomalies