J Korean Pediatr Soc.  1993 Oct;36(10):1447-1451.

A case of Roberts syndrome

• Choi Y
• Chung YH
• Lim IS
• Kim CH
• Lee DK
• Kim SN
• Song SY
• Chi JG

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.

Keyword

Roberts syndrome; Facial mid-line clefts; Phocomelia

MeSH Terms

Craniofacial Abnormalities
Ectromelia
Extremities
Heterochromatin
Humans
Infant, Newborn
Heterochromatin