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A Case of Raine Syndrome  

Park, Hye Jin (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Lee, Jeong Jin (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Seo, Jeong Sik (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Kim, Hyo Jin (Department of Biochemistry, School of Medicine, Kyungpook National University)
Choi, Je Yong (Department of Biochemistry, School of Medicine, Kyungpook National University)
Lee, Jun Hwa (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Nho, Un Seok (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Chung, Hai Lee (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Kim, Woo Taek (Department of Pediatrics, School of Medicine, The Catholic University of Daegu)
Publication Information
Clinical and Experimental Pediatrics / v.46, no.1, 2003 , pp. 91-94 More about this Journal
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;
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