{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T14:47:31Z","timestamp":1785509251048,"version":"3.56.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Langer\u2013Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3\u2013q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4\u2010year\u2010old girl with ID, short stature, microcephaly, distinctive facial phenotype, skeletal signs (exostoses on the left fibula, coccyx agenesis, stubby and dysmorphic sphenoid bone, osteoporosis), central nervous system malformations (hypoplastic and dysmorphic corpus callosum and septum pellucidum), pituitary gland hypoplasia and hyperreninemia. Array\u2010CGH revealed complex chromosomal rearrangements. A diagnosis of LGS was confirmed by the detection of a 8q23.3\u2013q24.1 deletion. Associated chromosomal abnormalities were a 21q22.1 deletion and a balanced reciprocal translocation t(2;11)(p24;p15) de novo, confirmed by FISH analysis. We document the patient's atypical findings, never described in LGS patients, in order to update the genotype\u2013phenotype correlation. We speculate that the disruption of regulatory elements mapping upstream <jats:italic>CYP11B2<\/jats:italic> involved in the deleted region could cause hyperreninemia. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36326","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:32:51Z","timestamp":1387485171000},"page":"753-759","source":"Crossref","is-referenced-by-count":11,"title":["Complex chromosomal rearrangements causing Langer\u2013Giedion syndrome atypical phenotype: Genotype\u2013phenotype correlation and literature review"],"prefix":"10.1002","volume":"164","author":[{"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Genesio","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Biology and Pathology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Ronga","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Biology and Pathology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Casertano","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Izzo","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Biology and Pathology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry Second University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Bravaccio","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry Second University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carolina","family":"Salerno","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Nitsch","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Biology and Pathology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso","family":"Andria","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Melis","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34233"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.019"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.03.014"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33511"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.11.8005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000064043"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1524"},{"key":"e_1_2_6_9_1","first-page":"1197","article-title":"Molecular definition of the shortest region of deletion overlap in the Langer\u2013Giedion syndrome","volume":"49","author":"L\u00fcdecke HJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32347"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35201"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200995"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30374"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32615"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32348"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2010.04.004"},{"key":"e_1_2_6_17_1","first-page":"313","article-title":"Langer\u2013Giedion syndrome. 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