- Case Report
- A Case of Roberts Syndrome
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Young Choi, Yo Han Chung, In Seok Lim, Chul Ha Kim, Dong Keun Lee, Seong Nam Kim, Sang Yong Song, Je Geun Chi
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Clin Exp Pediatr. 1993;36(10):1447-1451. Published online October 15, 1993
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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... |
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