Roberts syndrome with normal cell division.
Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.
Keppen
L D
LD
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock.
Gollin
S M
SM
Seibert
J J
JJ
Sisken
J E
JE
D000015:Abnormalities, Multiple; D002455:Cell Division; D002971:Cleft Lip / Q000150:complications / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000235:genetics; D004480:Ectromelia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging