{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T17:51:01Z","timestamp":1782755461963,"version":"3.54.5"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T00:00:00Z","timestamp":1423094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["5R00DC011282-04"],"award-info":[{"award-number":["5R00DC011282-04"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub\u2010groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster analysis and rater's clinical opinion to identify groups with similar phenotypes in two separate analyses. We used Cramer's Phi coefficient of association to assess the similarity among the clinician's groupings as well as among the statistical sub\u2010phenotypic groups and each of the clinician's groupings. The cluster analysis initially divided the 86 ears into a more and a less severe group. The less severe group included two sub\u2010groups that included ears classified as normal and a group that had very few anomalous components. The group of 48 more affected ears all had abnormalities of the helix crus; antihelix\u2010stem, \u2010superior crus and \u2010inferior crus; and antitragus. These were further divided into 4 sub\u2010phenotypes. There was a moderate degree of association among the raters' groupings (Cramer's Phi: 0.64 to 0.73). The statistical and clinical groupings had a lower degree of association (Cramer's Phi: 0.49 to 0.58). Using standardized characterization of structural abnormalities of the ear we identified six distinct phenotypic groups; correlations with clinicians' groupings were moderate. These clusters may represent groups of ear malformations associated with the same etiology, similar time of insult or target cell population during embryonic development. The results will help inform investigations on etiology. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36963","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T04:09:27Z","timestamp":1423195767000},"page":"688-694","source":"Crossref","is-referenced-by-count":5,"title":["Phenotypic sub\u2010grouping in microtia using a statistical and a clinical approach"],"prefix":"10.1002","volume":"167","author":[{"given":"Daniela V.","family":"Luquetti","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"},{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Center of Developmental Biology and Regenerative Medicine Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babette S.","family":"Saltzman","sequence":"additional","affiliation":[{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Center of Developmental Biology and Regenerative Medicine Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L.","family":"Heike","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"},{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Center for Clinical and Translational Research Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen C.","family":"Sie","sequence":"additional","affiliation":[{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Division of Pediatric Otolaryngology Head and Neck Surgery Seattle Children's Hospital Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig B.","family":"Birgfeld","sequence":"additional","affiliation":[{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Division of Plastic Surgery Department of Surgery University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly N.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"},{"name":"Craniofacial Center Seattle Children's Hospital Seattle Washington"},{"name":"Center for Clinical and Translational Research Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian G.","family":"Leroux","sequence":"additional","affiliation":[{"name":"Departments of Biostatistics School of Public Health and Oral Health Sciences School of Dentistry, University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","unstructured":"Cram\u00e9rH.1946.Mathematical Methods of Statistics Princeton University Press.","DOI":"10.1515\/9781400883868"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32599"},{"key":"e_1_2_6_4_1","volume-title":"Finding Groups in Data: An Introduction to Cluster Analysis","author":"Kaufman L","year":"2005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34352"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35963"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36963","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36963","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:26:30Z","timestamp":1696605990000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36963"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,5]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1002\/ajmg.a.36963"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36963","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,5]]}}}