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Volumn 20, Issue 2, 2005, Pages 136-140

Ultrasonographic diagnosis of jarcho-levin syndrome at 20 weeks' gestation in a fetus without previous family history

Author keywords

Jarcho Levin syndrome; Second trimester ultrasound; Spondylocostal dysostosis; Spondylothoracic dysostosis

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; GESTATIONAL AGE; HUMAN; JARCHO LEVIN SYNDROME; KYPHOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RIB MALFORMATION; SCREENING; SECOND TRIMESTER PREGNANCY; SPINE MALFORMATION; THORAX MALFORMATION;

EID: 14044276240     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000082438     Document Type: Article
Times cited : (11)

References (23)
  • 1
    • 0022471829 scopus 로고
    • Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling
    • Ayme S, Preus M: Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 1986;244:599-606.
    • (1986) Am J Med Genet , vol.244 , pp. 599-606
    • Ayme, S.1    Preus, M.2
  • 2
    • 0025822651 scopus 로고
    • Jarcho-Levin syndrome: Four new cases and classification of subtypes
    • Karnes PS, Day D, Berry SA, Pierpont ME: Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 1991;40:264-270.
    • (1991) Am J Med Genet , vol.40 , pp. 264-270
    • Karnes, P.S.1    Day, D.2    Berry, S.A.3    Pierpont, M.E.4
  • 3
    • 0030064549 scopus 로고    scopus 로고
    • Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
    • Mortier GR, Lachman RS, Bocian M, Rimoin DL: Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 1996;61:310-319.
    • (1996) Am J Med Genet , vol.61 , pp. 310-319
    • Mortier, G.R.1    Lachman, R.S.2    Bocian, M.3    Rimoin, D.L.4
  • 4
    • 0028285971 scopus 로고
    • Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry
    • Martinez-Frias ML, Bermejo E, Paisan L, Martin M, Egues J, Lopez JA, Martinez S, Orbea C, Cucalon F, Gairi JM, et al: Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry. Am J Med Genet 1994;51:203-212.
    • (1994) Am J Med Genet , vol.51 , pp. 203-212
    • Martinez-Frias, M.L.1    Bermejo, E.2    Paisan, L.3    Martin, M.4    Egues, J.5    Lopez, J.A.6    Martinez, S.7    Orbea, C.8    Cucalon, F.9    Gairi, J.M.10
  • 9
    • 0031229516 scopus 로고    scopus 로고
    • Jarcho-Levin syndrome: Prenatal diagnosis, perinatal care, and follow-up of siblings
    • Lawson ME, Share J, Benacerraf B, Krauss CM: Jarcho-Levin syndrome: Prenatal diagnosis, perinatal care, and follow-up of siblings. J Perinatol 1997;17:407-409.
    • (1997) J Perinatol , vol.17 , pp. 407-409
    • Lawson, M.E.1    Share, J.2    Benacerraf, B.3    Krauss, C.M.4
  • 10
    • 0030862874 scopus 로고    scopus 로고
    • Early sonographic diagnosis of Jarcho-Levin syndrome: A prospective screening program in one family
    • Eliyahu S, Weiner E, Lahav D, Shalev E: Early sonographic diagnosis of Jarcho-Levin syndrome: A prospective screening program in one family. Ultrasound Obstet Gynecol 1997;9:314-318.
    • (1997) Ultrasound Obstet Gynecol , vol.9 , pp. 314-318
    • Eliyahu, S.1    Weiner, E.2    Lahav, D.3    Shalev, E.4
  • 11
    • 0031875666 scopus 로고    scopus 로고
    • Jarcho-Levin syndrome: Two consecutive pregnancies in a Puerto Rican couple
    • Wong G, Levine D: Jarcho-Levin syndrome: Two consecutive pregnancies in a Puerto Rican couple. Ultrasound Obstet Gynecol 1998;12:70-73.
    • (1998) Ultrasound Obstet Gynecol , vol.12 , pp. 70-73
    • Wong, G.1    Levine, D.2
  • 12
    • 0023927942 scopus 로고
    • Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome)
    • Romero R, Ghidini A, Eswarra MS, Seashore MR, Hobbins JC: Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome). Obstet Gynecol 1988;71:988-991.
    • (1988) Obstet Gynecol , vol.71 , pp. 988-991
    • Romero, R.1    Ghidini, A.2    Eswarra, M.S.3    Seashore, M.R.4    Hobbins, J.C.5
  • 13
    • 0032918408 scopus 로고    scopus 로고
    • Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester
    • Lam YH, Eik-Nes SH, Tang MH, Lee CP, Nicholls JM: Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. Ultrasound Obstet Gynecol 1999;13:213-215.
    • (1999) Ultrasound Obstet Gynecol , vol.13 , pp. 213-215
    • Lam, Y.H.1    Eik-Nes, S.H.2    Tang, M.H.3    Lee, C.P.4    Nicholls, J.M.5
  • 15
    • 0033362086 scopus 로고    scopus 로고
    • A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
    • Turnpenny PD, Bulman MP, Frayling TM, et al: A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999;65:175-182.
    • (1999) Am J Hum Genet , vol.65 , pp. 175-182
    • Turnpenny, P.D.1    Bulman, M.P.2    Frayling, T.M.3
  • 16
    • 0042322955 scopus 로고    scopus 로고
    • Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review
    • Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E: Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review. Am J Med Genet 2003;120:241-246.
    • (2003) Am J Med Genet , vol.120 , pp. 241-246
    • Bannykh, S.I.1    Emery, S.C.2    Gerber, J.K.3    Jones, K.L.4    Benirschke, K.5    Masliah, E.6
  • 18
    • 0029319206 scopus 로고
    • IRONFAN: A sonographic window into the natural history of fetal anomalies
    • Rottem S: IRONFAN: A sonographic window into the natural history of fetal anomalies. Ultrasound Obstet Gynecol 1995;5:361-363.
    • (1995) Ultrasound Obstet Gynecol , vol.5 , pp. 361-363
    • Rottem, S.1
  • 19
    • 0031443826 scopus 로고    scopus 로고
    • Ultrasound screening for fetal abnormalities in the first trimester
    • Chitty LS, Pandya PP: Ultrasound screening for fetal abnormalities in the first trimester. Prenat Diag 1997;17:1269-1281.
    • (1997) Prenat Diag , vol.17 , pp. 1269-1281
    • Chitty, L.S.1    Pandya, P.P.2
  • 20
    • 0031801453 scopus 로고    scopus 로고
    • The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester
    • Whitlow BJ, Economides DL: The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998;11:258-261.
    • (1998) Ultrasound Obstet Gynecol , vol.11 , pp. 258-261
    • Whitlow, B.J.1    Economides, D.L.2
  • 21
    • 0029812617 scopus 로고    scopus 로고
    • Three-dimensional ultrasound in the evaluation of fetal head and spine anomalies
    • Mueller GM, Weiner CP, Yankowitz J: Three-dimensional ultrasound in the evaluation of fetal head and spine anomalies. Obstet Gynecol 1996;88:372-378.
    • (1996) Obstet Gynecol , vol.88 , pp. 372-378
    • Mueller, G.M.1    Weiner, C.P.2    Yankowitz, J.3
  • 23
    • 0034988756 scopus 로고    scopus 로고
    • Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound
    • Hull AD, James G, Pretorius DH: Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diag 2001;21:390-394.
    • (2001) Prenat Diag , vol.21 , pp. 390-394
    • Hull, A.D.1    James, G.2    Pretorius, D.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.