Title: Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
Abstract: Prenatal DiagnosisVolume 29, Issue 7 p. 715-717 Research Letter Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report Takahiro Yamada, Corresponding Author Takahiro Yamada [email protected] Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanDepartment of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.Search for more papers by this authorHideaki Sawai, Hideaki Sawai Genetic Counselling and Clinical Research Unit, School of Public Health, Graduate School of Medicine, Kyoto University, Kyoto, JapanSearch for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorHironao Numabe, Hironao Numabe Genetic Counselling and Clinical Research Unit, School of Public Health, Graduate School of Medicine, Kyoto University, Kyoto, JapanSearch for more papers by this authorKazutoshi Cho, Kazutoshi Cho Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanSearch for more papers by this authorHisanori Minakami, Hisanori Minakami Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanSearch for more papers by this author Takahiro Yamada, Corresponding Author Takahiro Yamada [email protected] Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanDepartment of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.Search for more papers by this authorHideaki Sawai, Hideaki Sawai Genetic Counselling and Clinical Research Unit, School of Public Health, Graduate School of Medicine, Kyoto University, Kyoto, JapanSearch for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorHironao Numabe, Hironao Numabe Genetic Counselling and Clinical Research Unit, School of Public Health, Graduate School of Medicine, Kyoto University, Kyoto, JapanSearch for more papers by this authorKazutoshi Cho, Kazutoshi Cho Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanSearch for more papers by this authorHisanori Minakami, Hisanori Minakami Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, JapanSearch for more papers by this author First published: 01 April 2009 https://doi.org/10.1002/pd.2268Citations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR. 1999. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. Am J Med Genet 84: 476–480. Chen H, Mu X, Sonoda T, et al. 2000. FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. South Med J 93: 622–624. Dabir T, McCrossan BA, Sweeney L, Magee A, Sands AJ. 2008. Down syndrome, achondroplasia and tetralogy of Fallot. Neonatology 94: 68–70. De Biasio P, Ichim IB, Scarso E, Baldi M, Barban A, Venturini PL. 2005. Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. Prenat Diagn 25: 426–428. Ferreira A, Matias A, Brandão O, Montenegro N. 2004. Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report. Fetal Diagn Ther 19: 241–245. Rousseau F, el Ghouzzi V, Delezoide AL, et al. 1996. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet 5: 509–512. Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K. 1999. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn 19: 21–24. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH, Fetal Medicine Foundation First Trimester Screening Group. 1998. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation. Lancet 352: 343–346. Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. 2001. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18: 9–17. Tavormina PL, Shiang R, Thompson LM, et al. 1995. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9: 321–328. Wong HS, Kidd A, Zuccollo J, et al. 2008. A case of thanatophoric dysplasia: The early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis. Fetal Diagn Ther 24: 71–73. Citing Literature Volume29, Issue7July 2009Pages 715-717 ReferencesRelatedInformation
Publication Year: 2009
Publication Date: 2009-04-01
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 4
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