A case of Roberts syndrome.
- Author:
Young CHOI
;
Yo Han CHUNG
;
In Seok LIM
;
Chul Ha KIM
;
Dong Keun LEE
;
Seong Nam KIM
;
Sang Yong SONG
;
Je Geun CHI
- Publication Type:Original Article
- Keywords:
Roberts syndrome;
Facial mid-line clefts;
Phocomelia
- MeSH:
Craniofacial Abnormalities;
Ectromelia;
Extremities;
Heterochromatin;
Humans;
Infant, Newborn
- From:Journal of the Korean Pediatric Society
1993;36(10):1447-1451
- CountryRepublic of Korea
- Language:Korean
-
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.
