Radiographic findings in liveborn triploidy.
The detailed radiographic features of triploidy, a fatal congenital disorder with 69 chromosomes, have not previously been reported. Radiographs of ten liveborn infants with chromosomally confirmed triploidy showed six findings highly suggestive of this diagnosis: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation of long bones, upswept clavicles and antimongoloid pelvis. Sixteen other less specific findings showed many similarities to those found in trisomy 18.
Silverthorn
K G
KG
Department of Radiology, University Hospital, Saskatoon, Saskatchewan, Canada.
Houston
C S
CS
Newman
D E
DE
Wood
B J
BJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011123:Polyploidy; D011859:Radiography; D014314:Trisomy