{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T13:27:30Z","timestamp":1759411650107},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003166","name":"National Foundation for Ectodermal Dysplasias","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label \/><jats:p>Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the <jats:italic>PORCN<\/jats:italic> gene located on the X\u2010chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n\u2009=\u200919) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.06) and weight (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) z\u2010scores of the participants were lower than the reference population. The mean head circumference (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), height (length) (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), weight (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01), and BMI (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05) for age z\u2010scores of the participants were lower than the reference population. The height\u2010for\u2010age and weight\u2010for\u2010age z\u2010scores of the participants did not differ significantly between birth and current measurements. Three\u2010fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31468","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T07:34:37Z","timestamp":1454312077000},"page":"29-33","source":"Crossref","is-referenced-by-count":9,"title":["Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz\u2013Gorlin syndrome)"],"prefix":"10.1002","volume":"172","author":[{"given":"Kathleen J.","family":"Motil","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Fete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy J.","family":"Fete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1079\/BJN19670070"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1995.tb00183.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/34.11.2540"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<45::AID-AJMG9>3.0.CO;2-O"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2012.04.010"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-2830"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-7216-3924-6.50076-7"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32789"},{"key":"e_1_2_6_12_1","unstructured":"National Center for Health Statistics.2000. 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