Trisomy 18 with Cantrell pentalogy in a stillborn infant.
A 34-week stillborn infant had omphalocele, agenesis of the sternum and anterior rib cage, membranous diaphragms with eventration of the viscera, ectopia cordis with absence of the pericardium, and congenital heart defect. These findings are consistent with a diagnosis of Cantrell pentalogy. The presence of bilateral clubfeet, spina bifida, hydrocephalus, abnormal ears, and horseshoe kidneys suggested a chromosome abnormality. Chromosome analysis showed trisomy 18. Individuals with manifestations of Cantrell pentalogy deserve cytogenetic evaluation.
Fox
J E
JE
Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, New York 11040.
Gloster
E S
ES
Mirchandani
R
R
D000015:Abnormalities, Multiple; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D014314:Trisomy