| A Case of Roberts Syndrome |
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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 |
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최영1, 정요한1, 임인석1, 김철하1, 이동근1, 김성남2, 송상용3, 지제근3 |
1중앙대학교 의과대학 소아과학교실
2중앙대학교 의과대학 병리학교실
3서울대학교 의과대학 병리학교실 |
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| Abstract |
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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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