| A Case of Raine Syndrome |
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Hye Jin Park1, Jeong Jin Lee1, Jeong Sik Seo1, Hyo Jin Kim2, Je Yong Choi2, Jun Hwa Lee1, Un Seok Nho1, Hai Lee Chung1, Woo Taek Kim1 |
1Department of Pediatrics, School of Medicine, The Catholic University of Daegu, Korea
2Department of Biochemistry, School of Medicine, Kyungpook National University, Daegu, Korea |
| Raine 증후군 1례 |
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박혜진1, 이정진1, 서정식1, 김효진2, 최제용2, 이준화1, 노은석1, 정혜리1, 김우택1 |
1대구가톨릭대학교 의과대학 소아과학교실
2경북대학교 의과대학 생화학교실 |
Correspondence:
Woo Taek Kim, Email: wootykim@cataegu.ac.kr
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| Abstract |
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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. |
| Key Words:
Raine Syndrome, Craniofacial anomalies |
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