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Volumn 269, Issue 1, 2003, Pages 57-61

Prenatal diagnosis of thanatophoric dysplasia in the second trimester: Ultrasonography and other diagnostic modalities

Author keywords

Fibroblast growth factor receptor 3; Osteochondrodysplasia; Thanatophoric dysplasia

Indexed keywords

ADULT; ARTICLE; ATELOSTEOGENESIS; BONE DYSPLASIA; BONE MATURATION; CASE REPORT; CHROMOSOME 4; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FEMALE; FIBROBLAST GROWTH FACTOR 3 GENE; FIBROCHONDROGENESIS; GENE; GENE LOCATION; GENE MUTATION; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; MACROCEPHALY; NEWBORN; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY; THANATOPHORIC DWARFISM;

EID: 0242641486     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-002-0417-1     Document Type: Article
Times cited : (21)

References (26)
  • 1
  • 3
    • 0029912958 scopus 로고    scopus 로고
    • Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for chondroplasia, hypochondroplasia, and thanatophoric dwarfism
    • Bonaventure J, Rousseau F, Legeai-Mallet, Le Merrer M, Munnich M, Maroteaux P (1996) Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for chondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet 63:148-154
    • (1996) Am J Med Genet , vol.63 , pp. 148-154
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet3    Le Merrer, M.4    Munnich, M.5    Maroteaux, P.6
  • 6
    • 0027050480 scopus 로고
    • Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity
    • Givol D, Yayon A (1992) Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 6:3362-3369
    • (1992) FASEB J , vol.6 , pp. 3362-3369
    • Givol, D.1    Yayon, A.2
  • 7
    • 0028609484 scopus 로고
    • Fetal biometry of skeletal dysplasias: A multicentric study
    • Goncalves L, Jeanty P (1994) Fetal biometry of skeletal dysplasias: a multicentric study. J Ultrasound Med 13:767-775
    • (1994) J Ultrasound Med , vol.13 , pp. 767-775
    • Goncalves, L.1    Jeanty, P.2
  • 10
    • 0020645412 scopus 로고
    • Discordance for the Kleeblattschaedel anomaly in monozygotic twins with thanatophoric dysplasia
    • Horton WA, Harris DJ, Collins DL (1983) Discordance for the Kleeblattschaedel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet 15:97-101
    • (1983) Am J Med Genet , vol.15 , pp. 97-101
    • Horton, W.A.1    Harris, D.J.2    Collins, D.L.3
  • 11
    • 0027344852 scopus 로고
    • Structural and functional diversity in the FGF receptor multigene family
    • Johnson DE, Williams LT (1993) Structural and functional diversity in the FGF receptor multigene family. Adv Cancer 60:1-41
    • (1993) Adv Cancer , vol.60 , pp. 1-41
    • Johnson, D.E.1    Williams, L.T.2
  • 14
    • 0029873142 scopus 로고    scopus 로고
    • Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3
    • Nerlich AG, Freisinger P, Bonaventure J (1996) Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. Am L Med Genet 63:155-160
    • (1996) Am L Med Genet , vol.63 , pp. 155-160
    • Nerlich, A.G.1    Freisinger, P.2    Bonaventure, J.3
  • 16
    • 0030567966 scopus 로고    scopus 로고
    • Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene
    • Pokharel RK, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M (1996) Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. Biochem Biophys Res Commun 227:236-239
    • (1996) Biochem Biophys Res Commun , vol.227 , pp. 236-239
    • Pokharel, R.K.1    Alimsardjono, H.2    Takeshima, Y.3    Nakamura, H.4    Naritomi, K.5    Hirose, S.6    Onishi, S.7    Matsuo, M.8
  • 17
    • 0030724573 scopus 로고    scopus 로고
    • Suspected skeletal dysplasia: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome
    • Rahemtullah A, McGillivray B, Wilson RD (1997) Suspected skeletal dysplasia: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol 177:864-869
    • (1997) Am J Obstet Gynecol , vol.177 , pp. 864-869
    • Rahemtullah, A.1    McGillivray, B.2    Wilson, R.D.3
  • 18
    • 0031725983 scopus 로고    scopus 로고
    • Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio
    • Ramus RM, Martin LB, Twickler DM (1998) Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio. Am J Obstet Gynecol 179:1348-1352
    • (1998) Am J Obstet Gynecol , vol.179 , pp. 1348-1352
    • Ramus, R.M.1    Martin, L.B.2    Twickler, D.M.3
  • 21
    • 0032900368 scopus 로고    scopus 로고
    • 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
    • Sawai H, Komori S, Ida A, Henmi T, Besso 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
    • (1999) Prenat Diagn , vol.19 , pp. 21-24
    • Sawai, H.1    Komori, S.2    Ida, A.3    Henmi, T.4    Besso, T.5    Koyama, K.6
  • 23
    • 0028860562 scopus 로고
    • Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
    • Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 4:2175-2177
    • (1995) Hum Mol Genet , vol.4 , pp. 2175-2177
    • Tavormina, P.L.1    Rimoin, D.L.2    Cohn, D.H.3    Zhu, Y.Z.4    Shiang, R.5    Wasmuth, J.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.