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In this study, we used a systematic anthropometric approach to facial morphology in 37 individuals with CH and their parents, primarily of French Canadian ancestry, and compared them to a control group of 78 French Canadian patients with well\u2010controlled type 1 diabetes and their parents. We were able to demonstrate clear morphological differences, which were more prevalent in the affected group than in the control group. More specifically, we showed the presence of a shorter skull base width (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) and reduced inner canthal distance (<jats:italic>P<\/jats:italic>\u2009=\u20090.006) in the CH face, as well as a relative underdevelopment of the mandible (<jats:italic>P<\/jats:italic>\u2009=\u20090.001). These findings were present in individuals of all ages, and were independent of the duration of growth hormone treatment (median treatment 90.8 months; range 7.2\u2013175.8 months). In addition, skull base width was significantly reduced in both mothers and fathers of affected children compared to the parents of the controls (<jats:italic>P\u2009<\/jats:italic>&lt;\u20090.001), despite comparable parental heights, supporting an underlying genetic etiology. Such extensive phenotypic studies have not been done in congenital hypopituitarism and will provide further opportunities for data mining. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37069","type":"journal-article","created":{"date-parts":[[2015,4,5]],"date-time":"2015-04-05T07:55:34Z","timestamp":1428220534000},"page":"1525-1533","source":"Crossref","is-referenced-by-count":3,"title":["Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case\u2010control study"],"prefix":"10.1002","volume":"167","author":[{"given":"Despoina","family":"Manousaki","sequence":"first","affiliation":[{"name":"Endocrinology Service Department of Pediatrics, Research Center, CHU\u2010Sainte\u2010Justine University of Montreal Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Allanson","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario, Department of Genetics University of Ottawa Ottawa Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lior","family":"Wolf","sequence":"additional","affiliation":[{"name":"Blavatnik School of Computer Science University of Tel Aviv Israel"},{"name":"FDNA Inc. 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