Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications

Detalhes bibliográficos
Autor(a) principal: Schinzel, Albert
Data de Publicação: 2013
Outros Autores: Riegel, Mariluce, Baumer, Alessandra, Furga, Andrea Superti, Moreira, Lilia M. A., Santo, Layla D. E., Schiper, Patricia P., Carvalho, José Henrique Dantas, Giedion, Andres
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/15884
Resumo: Texto completo: acesso restrito. p. 2216–2225
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spelling Schinzel, AlbertRiegel, MariluceBaumer, AlessandraFurga, Andrea SupertiMoreira, Lilia M. A.Santo, Layla D. E.Schiper, Patricia P.Carvalho, José Henrique DantasGiedion, AndresSchinzel, AlbertRiegel, MariluceBaumer, AlessandraFurga, Andrea SupertiMoreira, Lilia M. A.Santo, Layla D. E.Schiper, Patricia P.Carvalho, José Henrique DantasGiedion, Andres2014-09-09T14:47:11Z20131552-4825http://repositorio.ufba.br/ri/handle/ri/15884v. 161, n. 9Texto completo: acesso restrito. p. 2216–2225Long-term observations of individuals with the so-called Langer–Giedion (LGS) or tricho–rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up 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-shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11–q24.13 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-esteem, 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-mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2014-05-08T13:26:59Z No. of bitstreams: 1 10.1002ajmg.a.36062.pdf: 3991195 bytes, checksum: 128330500d7fe008f1a9d0892c921a06 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2014-09-09T14:47:11Z (GMT) No. of bitstreams: 1 10.1002ajmg.a.36062.pdf: 3991195 bytes, checksum: 128330500d7fe008f1a9d0892c921a06 (MD5)Made available in DSpace on 2014-09-09T14:47:11Z (GMT). No. of bitstreams: 1 10.1002ajmg.a.36062.pdf: 3991195 bytes, checksum: 128330500d7fe008f1a9d0892c921a06 (MD5) Previous issue date: 2013http://dx.doi.org/10.1002/ajmg.a.36062reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBALanger–Giedion syndromeFollow-up studyMicrodeletion 8q24FISHaCGHMicrodeletion syndromeContiguous gene syndromeLong-term follow-up of four patients with langer–giedion syndrome: clinical course and complicationsAmerican Journal of Medical Genetics Part Ainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengLICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/15884/2/license.txt0d4b811ef71182510d2015daa7c8a900MD52ORIGINAL10.1002ajmg.a.36062.pdf10.1002ajmg.a.36062.pdfapplication/pdf3991195https://repositorio.ufba.br/bitstream/ri/15884/1/10.1002ajmg.a.36062.pdf128330500d7fe008f1a9d0892c921a06MD51TEXT10.1002ajmg.a.36062.pdf.txt10.1002ajmg.a.36062.pdf.txtExtracted texttext/plain44513https://repositorio.ufba.br/bitstream/ri/15884/3/10.1002ajmg.a.36062.pdf.txtd80d72bbf864f57d5769a6604364e7afMD53ri/158842022-07-05 14:03:15.472oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:15Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
dc.title.alternative.pt_BR.fl_str_mv American Journal of Medical Genetics Part A
title Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
spellingShingle Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
Schinzel, Albert
Langer–Giedion syndrome
Follow-up study
Microdeletion 8q24
FISH
aCGH
Microdeletion syndrome
Contiguous gene syndrome
title_short Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
title_full Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
title_fullStr Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
title_full_unstemmed Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
title_sort Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications
author Schinzel, Albert
author_facet Schinzel, Albert
Riegel, Mariluce
Baumer, Alessandra
Furga, Andrea Superti
Moreira, Lilia M. A.
Santo, Layla D. E.
Schiper, Patricia P.
Carvalho, José Henrique Dantas
Giedion, Andres
author_role author
author2 Riegel, Mariluce
Baumer, Alessandra
Furga, Andrea Superti
Moreira, Lilia M. A.
Santo, Layla D. E.
Schiper, Patricia P.
Carvalho, José Henrique Dantas
Giedion, Andres
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Schinzel, Albert
Riegel, Mariluce
Baumer, Alessandra
Furga, Andrea Superti
Moreira, Lilia M. A.
Santo, Layla D. E.
Schiper, Patricia P.
Carvalho, José Henrique Dantas
Giedion, Andres
Schinzel, Albert
Riegel, Mariluce
Baumer, Alessandra
Furga, Andrea Superti
Moreira, Lilia M. A.
Santo, Layla D. E.
Schiper, Patricia P.
Carvalho, José Henrique Dantas
Giedion, Andres
dc.subject.por.fl_str_mv Langer–Giedion syndrome
Follow-up study
Microdeletion 8q24
FISH
aCGH
Microdeletion syndrome
Contiguous gene syndrome
topic Langer–Giedion syndrome
Follow-up study
Microdeletion 8q24
FISH
aCGH
Microdeletion syndrome
Contiguous gene syndrome
description Texto completo: acesso restrito. p. 2216–2225
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2014-09-09T14:47:11Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/15884
dc.identifier.issn.none.fl_str_mv 1552-4825
dc.identifier.number.pt_BR.fl_str_mv v. 161, n. 9
identifier_str_mv 1552-4825
v. 161, n. 9
url http://repositorio.ufba.br/ri/handle/ri/15884
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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