A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies

Manish G. Shah, Arie Franco, Kelly M. Wills, Anita S. Kulharya, Bradley S. Buckler, Jatinder J Bhatia

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We report a rare case of a newborn with complete monosomy 21 prenatally diagnosed in the amniotic fluid and subsequently confirmed in other tissues. Patient presented with multiple osseous, cardiac, and vascular anomalies. Cardiac anomalies included large atrial septal defect, ventricular septal defect, aneurysm of the left pulmonary artery and patent ductus arteriosus with large bidirectional shunt. Interruption of the inferior vena cava was noted. Although interrupted inferior vena cava associated with cardiac anomalies was previously reported, it has not been reported in association with monosomy 21.

Original languageEnglish (US)
JournalEuropean Journal of Radiology Extra
Volume76
Issue number2
DOIs
StatePublished - Nov 1 2010

Fingerprint

Inferior Vena Cava
Blood Vessels
Patent Ductus Arteriosus
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Amniotic Fluid
Pulmonary Artery
Aneurysm
Newborn Infant
Chromosome 21 monosomy

Keywords

  • Arthrogryposis
  • Inferior vena cava
  • Monosomy 21

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies. / Shah, Manish G.; Franco, Arie; Wills, Kelly M.; Kulharya, Anita S.; Buckler, Bradley S.; Bhatia, Jatinder J.

In: European Journal of Radiology Extra, Vol. 76, No. 2, 01.11.2010.

Research output: Contribution to journalArticle

Shah, Manish G. ; Franco, Arie ; Wills, Kelly M. ; Kulharya, Anita S. ; Buckler, Bradley S. ; Bhatia, Jatinder J. / A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies. In: European Journal of Radiology Extra. 2010 ; Vol. 76, No. 2.
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