How to cite this article: Hunter AGW, Collins JS, Deardorff MA, Krantz ID. 2009. Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet Part A 149A:2181–2192.
Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines†
Version of Record online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2181–2192, October 2009
How to Cite
Hunter, A. G.W., Collins, J. S., Deardorff, M. A. and Krantz, I. D. (2009), Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines. Am. J. Med. Genet., 149A: 2181–2192. doi: 10.1002/ajmg.a.33073
- Issue online: 24 SEP 2009
- Version of Record online: 16 SEP 2009
- Manuscript Accepted: 27 JUL 2009
- Manuscript Received: 2 APR 2009
- NIH. Grant Numbers: NICHD PO1 HD052860, NICHD K08 KHD055488A, NICHD 5P30HD026979
- South Carolina Department of Disabilities and Special Needs and the Genetics Endowment of South Carolina
- Cornelia de Lange syndrome;
- ear dysmorphology;
- minor ear variants;
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. © 2009 Wiley-Liss, Inc.