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KMID : 0367419930360101447
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Journal of Korean Pediatric Society
1993 Volume.36 No. 10 p.1447 ~ p.1451
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A Case of Roberts Syndrome
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최영
정요한/임인석/김철하/이동근/김성남/송상용/지제근
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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, severe facial mid-line clefts, and tetraphoco-amelia.
The brief review of the literlature was made.
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KEYWORD
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