Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis.
We describe a further case of trisomy 18 with total cranio-rachischisis and radial agenesis, and report the first case with thoraco-abdominoschisis. We review these rare findings in trisomy 18.
Donaldson
S J
SJ
Department of Human Genetics, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg.
Wright
C A
CA
de Ravel
T J
TJ
D000005:Abdomen / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000473:pathology*; D000757:Anencephaly / Q000235:genetics / Q000473:pathology*; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D013909:Thorax / Q000002:abnormalities*; D014314:Trisomy / Q000473:pathology*