Concepedia

Trisomy 18 with Ectopia Cordis, Omphalocele, and Ventricular Septal Defect: Case Report

Steven P. Soper, Linda R. Roe, H. Eugene Hoyme, Jackson J. Clemmons

Pediatric Pathology · 1986 · 37 citations · 7 references

Abstract

A case of thoracoabdominal ectopia cordis was diagnosed by ultrasonography at 21 weeks' gestation. Chromosomal analysis showed full trisomy 18. This case supports the associational of thoracoabdominal ectopia cordis (Cantrell's pentad) with chromosomal errors, specifically trisomy 18.

References

7

A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart.

Cantrell, Haller Ja, Ravitch Mm · PubMed · 1958 · 747 citations

Developmental Anomaly, Congenital Defects, Abdominal Wall +5

Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome.

William M. Toyama · PubMed · 1972 · 265 citations

Ectopia Cordis, Congenital Defects, Anterior Abdominal Wall +14

Embryology for Surgeons: The Embryological Basis for the Treatment of Congenital Defects

John G. Raffensperger · JAMA · 1972 · 163 citations

Normal Embryology, Embryological Basis, Gynecology +21

Recognizable patterns of human malformation: genetic, embryologic, and clinical aspects.

David Weyhe Smith · PubMed · 1970 · 155 citations

Developmental Anomaly, Developmental Biology, Dysplasia +8

Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects

Robert A. Goyer · JAMA · 1970 · 127 citations

Fertility, Human Malformation, Vascular Malformation +24