{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hunter AG"],"funding":["NICHD NIH HHS","PHS HHS"],"pagination":["2181-92"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2764032"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["149A(10)"],"pubmed_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 l"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines."],"pmcid":["PMC2764032"],"funding_grant_id":["P30 HD026979","K08 KHD055488A","P01 HD052860-040001","K08 HD055488","P01 HD052860","K08 HD055488-03","5P30HD026979"],"pubmed_authors":["Collins JS","Deardorff MA","Hunter AG","Krantz ID"],"additional_accession":[]},"is_claimable":false,"name":"Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.","description":"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 l","dates":{"release":"2009-01-01T00:00:00Z","publication":"2009 Oct","modification":"2025-06-01T01:06:30.097Z","creation":"2025-06-01T01:06:30.097Z"},"accession":"S-EPMC2764032","cross_references":{"pubmed":["19764039"],"doi":["10.1002/ajmg.a.33073"]}}