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
- Augusta University
Scholary Output:
Contribution to journal
Article
Peer-reviewAbstract
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-reviewOriginal language
English (US)Pages from-to (Number of pages)
Pages e65-e68Journal (Volume, Issue Number)
European Journal of Radiology Extra (Volume 76, Issue 2)Publication milestones
- Published - 11/2010
Publication status
Published - 11/2010
ISSN
1571-4675Publication IDs
- Scopus: 78149498271
Publication metrics
Metrics
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
