Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field

R. Carmi, J. A. Boughman

Research output: Contribution to journalArticlepeer-review

146 Scopus citations

Abstract

Five cases of the Pentalogy of Cantrell (PC), ascertained through the Baltimore-Washington population-based study of infants with congenital cardiovascular malformations, represent a regional prevalence of 5.5/1 million liveborn infants for this disorder. Three of these patients had cleft lip with or without palate. Review of the reported literature of the Pentalogy of Cantrell and various combinations of the anomalies within the spectrum of this pentad suggests that the PC defines a specific midline ventral developmental field. Cleft lip with or without cleft palate and encephalocele tend to specifically associate with ventral midline anomalies within the spectrum of PC. These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits of the midline developmental field.

Original languageEnglish
Pages (from-to)90-95
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume42
Issue number1
DOIs
StatePublished - 1 Jan 1992
Externally publishedYes

Keywords

  • Pentalogy of Cantrell
  • cleft lip and palate
  • ectopia cordis
  • midline developmental field
  • neural tube defects

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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