{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T20:47:54Z","timestamp":1788468474298,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T00:00:00Z","timestamp":1375401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"RedeBRIM Project\/CNPq\/Brazil","award":["402012\/2010-0"],"award-info":[{"award-number":["402012\/2010-0"]}]},{"name":"Swiss National Foundation","award":["320030-113635"],"award-info":[{"award-number":["320030-113635"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Long\u2010term observations of individuals with the so\u2010called Langer\u2013Giedion (LGS) or tricho\u2013rhino\u2010phalangeal type II (TRPS2) are scarce. We report here a on follow\u2010up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone\u2010shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11\u2013q24.13 containing among others the genes EXT1 and TRPS1. Most patients with TRPS2 are only borderline or mildly cognitively delayed, and few are of normal intelligence. Their practical skills are better than their intellectual capability, and, for this reason and because of their low self\u2010esteem, they are often underestimated. Some patients develop seizures at variable age. Osteomas on processes of cervical vertebrae may cause pressure on cervical nerves or dissection of cerebral arteries. Joint stiffness is observed during childhood and changes later to joint laxity causing instability and proneness to trauma. Perthes disease is not rare. Almost all males become bald at or soon after puberty, and some develop (pseudo) gynecomastia. Growth hormone deficiency was found in a few patients, TSH deficiency so far only in one. Puberty and fertility are diminished, and no instance of transmission of the deletion from a non\u2010mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36062","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T22:15:17Z","timestamp":1375481717000},"page":"2216-2225","source":"Crossref","is-referenced-by-count":22,"title":["Long\u2010term follow\u2010up of four patients with langer\u2013giedion syndrome: Clinical course and complications"],"prefix":"10.1002","volume":"161","author":[{"given":"Albert","family":"Schinzel","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics University of Z\u00fcrich Z\u00fcrich Switzerland"},{"name":"Department of Pediatrics University of Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[{"name":"UFRGS Porto Alegre RS Brazil"},{"name":"Gene Therapy Center Research Center, Hospital de Clinicas de Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Baumer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Z\u00fcrich Z\u00fcrich Switzerland"},{"name":"Department of Pediatrics University of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia M.A.","family":"Moreira","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Genetics &amp; Society Program Institute of Biology, Federal University of Bahia (UFBA) Salvador Bahia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layla D.E.","family":"Santo","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Institute of Biology Federal University of Bahia (UFBA) Salvador Bahia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia P.","family":"Schiper","sequence":"additional","affiliation":[{"name":"Department of Health of the State of Bahia State School of Public Health Salvador de Bahia Bahia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Henrique Dantas","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Association of Parents and Friends of Exceptional Children (APAE) Salvador Bahia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Giedion","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,2]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"376","article-title":"Su di un caso di disostosi periferica associata con estosi osteogeniche multiple ed iposomia disuniforme e disarmonica","volume":"34","author":"Al\u00e9 G","year":"1951","journal-title":"Ann Radiol Diagn"},{"key":"e_1_2_6_3_1","first-page":"31","article-title":"The orthopaedic manifestations of the Langer\u2013Giedion syndrome","volume":"21","author":"Bauermeister S","year":"1992","journal-title":"Orthop Rev"},{"key":"e_1_2_6_4_1","first-page":"224","article-title":"The critical segment for the Langer\u2013Giedion syndrome: 8q24. 11\u2013q24.12","volume":"24","author":"Bowen P","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050512"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441586"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00327117"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02806.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34233"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00327126"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289486"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1228596"},{"key":"e_1_2_6_13_1","first-page":"595","article-title":"TRP syndrome","volume":"118","author":"Gorlin RJ","year":"1969","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340326"},{"key":"e_1_2_6_15_1","first-page":"147","article-title":"Langer\u2013Giedion syndrome","author":"Hall BD","year":"1974","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_16_1","first-page":"341","article-title":"Ectodermal dysplasia, achondrodysplasia and congenital morbus cordis","volume":"82","author":"Keizer DPR","year":"1951","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_17_1","first-page":"181","article-title":"Langer\u2013Giedion syndrome with renal cyst","volume":"72","author":"Kulkarni ML","year":"2005","journal-title":"Indian J Pediatr"},{"key":"e_1_2_6_18_1","first-page":"55","article-title":"The thoracic\u2013pelvic\u2010phalangeal syndrome. clinical delineation of birth defects part IV. 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