{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:47Z","timestamp":1791561047737,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100001260","name":"National Organization for Rare Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001260","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007857","name":"Intellectual and Developmental Disabilities Research Center","doi-asserted-by":"publisher","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}],"id":[{"id":"10.13039\/100007857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n Cardio\u2010facio\u2010cutaneous (\n CFC<\/jats:styled-content>\n ) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with\n CFC<\/jats:styled-content>\n through\n CFC<\/jats:styled-content>\n International and collected data on assessing height, weight, and body mass index (\n BMI<\/jats:styled-content>\n ). We found that the height\u2010for\u2010age and weight\u2010for\u2010age\n Z<\/jats:italic>\n \u2010scores were consistently lower in individuals with\n CFC<\/jats:styled-content>\n than in the reference population and that children with\n CFC<\/jats:styled-content>\n experience growth restriction from infancy to adulthood. Our findings show that as individuals age, their height\n Z<\/jats:italic>\n \u2010scores remain constant (\u22122 to \u22123\n SD<\/jats:styled-content>\n ). However, over time, their weight shows a progressive decrease from average. There were no significant differences between the mean\n Z<\/jats:italic>\n \u2010scores of the growth parameters based on an individual's history of enteral feeding, gene associated with diagnosis, nor growth hormone deficiency status. This implies that feeding modality and severity of feeding difficulties may not be directly related to growth. Other factors could be responsible, such as malabsorption of nutrients, constitutional growth delay, hormonal deficiencies or resistance, or cardiac abnormalities. Our study is one of the first to systematically characterize growth parameters and analyze the association of clinical covariates with these parameters in individuals with\n CFC<\/jats:styled-content>\n syndrome. Accurate assessment of growth in this rare condition will allow providers to recognize outliers of growth in their patients with\n CFC<\/jats:styled-content>\n when compared to other individuals with\n CFC<\/jats:styled-content>\n and make necessary referrals and recommendations, which may ultimately improve outcomes.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.70218","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T03:55:52Z","timestamp":1780026952000},"page":"2443-2453","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessment of Growth in Cardio\u2010Facio\u2010Cutaneous Syndrome"],"prefix":"10.1002","volume":"200","author":[{"given":"Kari","family":"Johnston","sequence":"first","affiliation":[{"name":"School of Health Professions, Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandesh C. S.","family":"Nagamani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA"},{"name":"Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley S.","family":"Miller","sequence":"additional","affiliation":[{"name":"Division of Endocrinology University of Minnesota Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A.","family":"Rauen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard D.","family":"Boyce","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics University of Pittsburgh Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Musaad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2013 Nutrition Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar L.","family":"Magoulas","sequence":"additional","affiliation":[{"name":"School of Health Professions, Baylor College of Medicine Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA"},{"name":"Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35292"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0922"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.320.7244.1240"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1306-5"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2017.22.4.240"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01674-y"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35519"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1556-0864(15)31506-9"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv435"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.004"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3189"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00388"},{"key":"e_1_2_12_16_1","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Rauen K. 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