Left ventricular noncompaction

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

Absent thumb

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.


Total: 1

                      


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PMID (PMCID)
21567924
FEMALE Infant
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?
Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ.
Am J Med Genet A. 2011;155A(6):1409-13.
In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter-McAlpine syndrome.