{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:56:42Z","timestamp":1784735802814,"version":"3.55.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"11","funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100007952","name":"Eva Luise und Horst K\u00f6hler Stiftung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007952","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0287_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Short stature is one of the most common reasons for consulting a paediatric endocrinologist. Targeted diagnosis of familial short stature can be challenging due to a broad spectrum of differential diagnoses.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0287_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Here we report a novel mutation in the fibrillin 1 gene <jats:italic>(FBN1)<\/jats:italic> in six family members causing a mild phenotype of acromicric dysplasia. Additionally, we present the effects of growth hormone therapy in one of the affected children.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0287_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Acromicric dysplasia is a very rare skeletal dysplasia with a prevalence of &lt;1 of 1.000.000 with only about 60 cases being reported worldwide. It is characterized by short stature, acromelia, mild facial dysmorphy but normal intelligence. This study aims to exemplify the clinical and molecular features of <jats:italic>FBN1<\/jats:italic>-related acromicric dysplasia and illustrates its pleiotropy by presenting a new, mild phenotype.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0287","type":"journal-article","created":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T06:47:27Z","timestamp":1660027647000},"page":"1443-1447","source":"Crossref","is-referenced-by-count":3,"title":["Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7352-5866","authenticated-orcid":false,"given":"Friederike","family":"Quitter","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital , Universit\u00e4tsklinikum Carl Gustav Carus, Technische Universit\u00e4t Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Flury","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital , Universit\u00e4tsklinikum Carl Gustav Carus, Technische Universit\u00e4t Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Waldmueller","sequence":"additional","affiliation":[{"name":"University Hospital T\u00fcbingen, Institut f\u00fcr Medizinische Genetik und Angewandte Genomik T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Schubert","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital , Universit\u00e4tsklinikum Carl Gustav Carus, Technische Universit\u00e4t Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Koehler","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital , Universit\u00e4tsklinikum Carl Gustav Carus, Technische Universit\u00e4t Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital , Universit\u00e4tsklinikum Carl Gustav Carus, Technische Universit\u00e4t Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"2023040100342178220_j_jpem-2022-0287_ref_001","doi-asserted-by":"crossref","unstructured":"Bonafe, L, Cormier-Daire, V, Hall, C, Lachman, R, Mortier, G, Mundlos, S, et al.. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet 2015;167A:2869\u201392. https:\/\/doi.org\/10.1002\/ajmg.a.37365.","DOI":"10.1002\/ajmg.a.37365"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_002","doi-asserted-by":"crossref","unstructured":"Le Goff, C, Mahaut, C, Wang, LW, Allali, S, Abhyankar, A, Jensen, S, et al.. Mutations in the TGF\u03b2 binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011;89:7\u201314. https:\/\/doi.org\/10.1016\/j.ajhg.2011.05.012.","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_003","doi-asserted-by":"crossref","unstructured":"Faivre, L, Le Merrer, M, Baumann, C, Polak, M, Chatelain, P, Sulmont, V, et al.. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001;38:745\u20139. https:\/\/doi.org\/10.1136\/jmg.38.11.745.","DOI":"10.1136\/jmg.38.11.745"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_004","doi-asserted-by":"crossref","unstructured":"Allali, S, Le Goff, C, Pressac-Diebold, I, Pfennig, G, Mahaut, C, Dagoneau, N, et al.. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011;48:417\u201321. https:\/\/doi.org\/10.1136\/jmg.2010.087544.","DOI":"10.1136\/jmg.2010.087544"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_005","doi-asserted-by":"crossref","unstructured":"Sakai, LY, Keene, DR, Renard, M, De Backer, J. FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders. Gene 2016;591:279\u201391. https:\/\/doi.org\/10.1016\/j.gene.2016.07.033.","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_006","doi-asserted-by":"crossref","unstructured":"Pereira, L, D\u2019Alessio, M, Ramirez, F, Lynch, JR, Sykes, B, Pangilinan, T, et al.. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 1993;2:961\u20138. https:\/\/doi.org\/10.1093\/hmg\/2.7.961.","DOI":"10.1093\/hmg\/2.7.961"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_007","doi-asserted-by":"crossref","unstructured":"Yu, J, Urban, J. Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate. J Anat 2013;223:641\u201350. https:\/\/doi.org\/10.1111\/joa.12123.","DOI":"10.1111\/joa.12123"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_008","doi-asserted-by":"crossref","unstructured":"Le Goff, C, Cormier-Daire, V. Chondrodysplasias and TGF\u03b2 signaling. Bonekey Rep 2015;4:642. https:\/\/doi.org\/10.1038\/bonekey.2015.9.","DOI":"10.1038\/bonekey.2015.9"},{"key":"2023040100342178220_j_jpem-2022-0287_ref_009","unstructured":"Yorifuji, T, Higuchi, S, Kawakita, R. Growth hormone treatment for achondroplasia. Pediatr Endocrinol Rev 2018;16:123\u20138. https:\/\/doi.org\/10.17458\/per.vol16.2018.yhk.ghachondroplasia."},{"key":"2023040100342178220_j_jpem-2022-0287_ref_010","doi-asserted-by":"crossref","unstructured":"Jin, HS, Song, HY, Cho, SY, Ki, CS, Yang, SH, Kim, OH, et al.. Acromicric dysplasia caused by a novel heterozygous mutation of FBN1 and effects of growth hormone treatment. Ann Lab Med 2017;37:92\u20134. https:\/\/doi.org\/10.3343\/alm.2017.37.1.92.","DOI":"10.3343\/alm.2017.37.1.92"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0287\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0287\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T15:45:44Z","timestamp":1680363944000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0287\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,9]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,9,21]]},"published-print":{"date-parts":[[2022,11,25]]}},"alternative-id":["10.1515\/jpem-2022-0287"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0287","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,9]]}}}