title: Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.
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.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina.
authors.forename: Alasdair G W
authors.initials: AG
authors.lastname: Hunter
authors.forename: Julianne S
authors.initials: JS
authors.lastname: Collins
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000145:classification* / Q000175:diagnosis / Q000473:pathology; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000473:pathology*; D004423:Ear / Q000473:pathology*; D005260:Female; D017408:Guidelines as Topic; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D055815:Young Adult