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Journal of the Korean Pediatric Society 1993;36(10):1447-1451.
Published online October 15, 1993.
A Case of Roberts Syndrome
Young Choi1, Yo Han Chung1, In Seok Lim1, Chul Ha Kim1, Dong Keun Lee1, Seong Nam Kim2, Sang Yong Song3, Je Geun Chi3
1Department of Pediatrics, College of Medicine, Chung-Ang University, Seoul, Korea
2Department of Pathology, College of Medicine, Chung-Ang University, Seoul, Korea
3Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea
Roberts 증후군 1례
최영1, 정요한1, 임인석1, 김철하1, 이동근1, 김성남2, 송상용3, 지제근3
1중앙대학교 의과대학 소아과학교실
2중앙대학교 의과대학 병리학교실
3서울대학교 의과대학 병리학교실
Abstract
Roberts syndrome is an autosomal recessive disorder accompanied by limb defects, craniofacial abnormalities, pre-and postnatal growth retardation. Patients with Roberts syndrome have characteristic premature separation of heterochromatin of many chromosomes and abnormalties in celldivision cycle. We have experienced a case of Roberts syndrome in an immature neonate. The patients showed characteristic clinical features of multiple encephaloceles. Severe facial mid-line clefts, and tertraphoco-amelia. The brief review of the literlature was made.
Key Words: Roberts syndrome, Facial mid-line clefts, Phocomelia


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