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

  • Manish G. Shah
    ,
  • Arie Franco(corresponding author)
    ,
  • Kelly M. Wills
    ,
  • Anita S. Kulharya
    ,
  • Bradley S. Buckler
    ,
  • Jatinder J.S. Bhatia
*Corresponding author for this work
  • Augusta University
Scholary Output:
Contribution to journal
Article
Peer-review

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.

Publication Information

Output type

Scholary Output:
Contribution to journal
Article
Peer-review

Original language

English (US)

Pages from-to (Number of pages)

Pages e65-e68

Journal (Volume, Issue Number)

European Journal of Radiology Extra (Volume 76, Issue 2)

Publication milestones

  • Published - 11/2010

Publication status

Published - 11/2010

ISSN

1571-4675

Publication IDs

  • Scopus: 78149498271

Publication metrics

Metrics

Scopus
citations
SciVal
FWCI
0.28
SciVal
Author count
6
SciVal
citations
5
SciVal
Paper percentile
51
Fractional count
1
Fractional count
0.17
Fractional count
5
Fractional count
0.83
Fractional count
1
Fractional count
1

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Citation count
6
Captures
4