Trisomy 18 with Cantrell pentalogy in a stillborn infant

J. E. Fox, E. S. Gloster, R. Mirchandani

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)391-394
Number of pages4
JournalAmerican journal of medical genetics
Volume31
Issue number2
DOIs
StatePublished - Jan 1 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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