{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:03:39Z","timestamp":1792037019572,"version":"4.4.0"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of <jats:italic>FBN1<\/jats:italic> variant type (haploinsufficiency [HI]\/dominant negative [DN]) on growth, and compare MFS\u2010related height increase across populations. Height and weight data of individuals with MFS aged 0\u201321\u2009years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype\u2013phenotype relationships, <jats:italic>FBN1<\/jats:italic> variant type was included as an independent variable in height\u2010for\u2010age and BMI\u2010for\u2010age models. MFS\u2010related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height\u2010for\u2010age, BMI\u2010for\u2010age, and weight\u2010for\u2010height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. <jats:italic>FBN1\u2010<\/jats:italic>HI variants were associated with taller height in both sexes, and decreased BMI in females (<jats:italic>p<\/jats:italic>\u2010values &lt;0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI\/DN) influence tall and slender stature in MFS.<\/jats:p>","DOI":"10.1002\/ajmg.a.63047","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T06:58:32Z","timestamp":1668581912000},"page":"479-489","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Growth charts for Marfan syndrome in the Netherlands and analysis of genotype\u2013phenotype relationships"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1174-7340","authenticated-orcid":false,"given":"Peter","family":"Lauffer","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital Amsterdam University Medical Center, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam University Medical Center, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aeilko H.","family":"Zwinderman","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Bioinformatics and Biostatistics Amsterdam University Medical Center, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floor A. 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C.","family":"Krapels","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M. B. H.","family":"van de Laar","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Center of Medical Genetics, Antwerp University Hospital  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M. J.","family":"Spaans","sequence":"additional","affiliation":[{"name":"Growth Analyser B.V.  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