TY - JOUR
T1 - Trisomy 18 with Cantrell pentalogy in a stillborn infant
AU - Fox, J. E.
AU - Gloster, E. S.
AU - Mirchandani, R.
PY - 1988
Y1 - 1988
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320310218
DO - 10.1002/ajmg.1320310218
M3 - Article
C2 - 3232702
AN - SCOPUS:0023791733
SN - 0148-7299
VL - 31
SP - 391
EP - 394
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 2
ER -