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Comparative Study
. 2009 Oct;149A(10):2181-92.
doi: 10.1002/ajmg.a.33073.

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines

Alasdair G W Hunter  1 , Julianne S Collins, Matthew A Deardorff, Ian D Krantz
Affiliations
Comparative Study

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines

Alasdair G W Hunter et al. Am J Med Genet A. 2009 Oct.

Abstract

The literature abounds with reports of malformation syndromes in which human external ears are variously described as dysplastic, abnormal, large/small, low set, typical, or in some way unusual. Rarely is the ear well illustrated or described in meaningful detail. With few exceptions, such as Down syndrome, there is no real understanding of the degree to which ear morphology is affected in a specific syndrome. This paper describes a retrospective attempt to apply the recently published Morphological Definitions of the ear to compare a control sample of convenience with a group of patients with Cornelia de Lange syndrome (CdLS) (all six papers in this issue are available online, open access at http://www3.interscience.wiley.com/journal/121641055/issue). Although this study has a number of limitations, it demonstrates that the method can be successfully applied and is capable of producing data that can be subjected to statistical analysis. The ears of the patients with CdLS were significantly different from the controls over a number of descriptors, the most significant of which included more frequent apparent posterior rotation, a shorter more serpiginous antihelical stem and sharper antihelical to inferior crus angle, a shorter crus helix, a more V-shaped incisura, and a smaller lobe.

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Figures

Figure 1
Figure 1
Scale for assessment of antihelical stem length; 1a is short, 1b average, and 1c long.
Figure 2
Figure 2
Method used to assess antihelical to inferior antihelical crus angle. Usually there is a smooth transition from the antihelical stem to its crus (no angle). 2a shows a mild angle greater than 90° (scored anterosuperior), 2b shows an angle of about 90° (scored horizontal) and 2c the angle is acute and clearly less than 90 (scored anteroinferior).
Figure 3
Figure 3
Scale for assessment of width of the superior crus of the antihelix; 3a is narrow, 3b average, and 3c wide.
Figure 4
Figure 4
An ear marked with a line on the longitudinal axis of the ear (length) and a line parallel to that drawn touching the extreme posterior of the ear. The width was taken as the perpendicular distance from the anterior tragus to intersect with the posterior parallel line.
Figure 5
Figure 5
Ear showing how the rotation was estimated as the angle (curved arrow) between a vertical line parallel to the sideburn hair and a line along the insertion of the ear at the face.
Figure 6
Figure 6
Example of an ear showing the open incisura (described in detail in Hunter, 2009, Am J Med Genet, in press) found to be relatively common in CdLS.
See this image and copyright information in PMC

References

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