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Journal of the Korean Pediatric Society ; : 1447-1451, 1993.
Artigo em Coreano | WPRIM | ID: wpr-51318

RESUMO

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.


Assuntos
Humanos , Recém-Nascido , Anormalidades Craniofaciais , Ectromelia , Extremidades , Heterocromatina
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