A case of Roberts syndrome

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, severe facial mid-line clefts, and tetraphoco-amelia. The brief review of the literlature was made.