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Automatic Analysis of Local Nasal Features in 22q11.2DS Affected Individuals

Summary: Automatic Analysis of Local Nasal Features in 22q11.2DS Affected
Jia Wu, Katarzyna Wilamowska, Linda Shapiro IEEE Fellow, and Carrie Heike M.D.
Abstract-- The 22q11.2 deletion syndrome is a common genetic
condition with an estimated prevalence between 1:2000 and
1:6000 live births in the US. The syndrome is manifested
in multiple different craniofacial features. The nasal area is
known to play a role in assessing the extent of dysmorphology
of an individual patient. In this paper, we present a method
for detecting and assessing the severity of a common nasal
feature: the bulbous nasal tip. Our method locates the nose
and computes four descriptors, each of which leads to a
severity score. Experiments with the four severity scores and
a combinations of the best two show that using all five scores
gives the best prediction of bulbous nasal tip. Furthermore, the
bulbous nasal tip measures outperformed both the median of
human experts and our own prior work on global descriptors
[12] for prediction of 22q11.2DS.
With the sequencing of the human genome completed over


Source: Anderson, Richard - Department of Computer Science and Engineering, University of Washington at Seattle


Collections: Computer Technologies and Information Sciences