Trisomy 18 with Cantrell pentalogy in a stillborn infant
- 1 October 1988
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (2), 391-394
- https://doi.org/10.1002/ajmg.1320310218
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.Keywords
This publication has 8 references indexed in Scilit:
- Trisomy 18 with Ectopia Cordis, Omphalocele, and Ventricular Septal Defect: Case ReportPediatric Pathology, 1986
- Early prenatal sonographic appearance of rare thoraco-abdominal eventrationPrenatal Diagnosis, 1984
- The in utero findings in twin pentalogy of Cantrell.Journal of Ultrasound in Medicine, 1984
- Thoracoabdominal Ectopia Cordis in a TwinScandinavian Journal of Thoracic and Cardiovascular Surgery, 1983
- Errors of morphogenesis: Concepts and termsThe Journal of Pediatrics, 1982
- Ectopia Cordis and Chromosome ErrorsPediatrics, 1980
- Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a CasePublished by American Academy of Pediatrics (AAP) ,1978
- Chromosome aberration in ectopia cordis (46,XX,17q+)American Heart Journal, 1978