메뉴 건너뛰기




Volumn 21, Issue 5, 2006, Pages 401-403

Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family

Author keywords

Nuchal translucency; Short rib polydactyly syndrome; Skeletal dysplasias

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; FAMILY; FEMALE; FETUS; GESTATION PERIOD; HIGH RISK POPULATION; HUMAN; HYPOPLASIA; LETHALITY; NUCHAL TRANSLUCENCY MEASUREMENT; PRIORITY JOURNAL; RARE DISEASE; SECOND TRIMESTER PREGNANCY; THORAX MALFORMATION;

EID: 33747291853     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000093879     Document Type: Article
Times cited : (4)

References (13)
  • 1
    • 0032146382 scopus 로고    scopus 로고
    • UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation
    • Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH for the Fetal Medicine Foundation First Trimester Screening Group: 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 1998;352:343-346.
    • (1998) Lancet , vol.352 , pp. 343-346
    • Snijders, R.J.1    Noble, P.2    Sebire, N.3    Souka, A.4    Nicolaides, K.H.5
  • 2
    • 0033537299 scopus 로고    scopus 로고
    • Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: Population based cohort study
    • Hyett J, Perdu M, Sharland G, Snijders RJ, Nicolaides KH: Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 1999;318:81-85.
    • (1999) BMJ , vol.318 , pp. 81-85
    • Hyett, J.1    Perdu, M.2    Sharland, G.3    Snijders, R.J.4    Nicolaides, K.H.5
  • 3
    • 0034920539 scopus 로고    scopus 로고
    • Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester
    • Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH: Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001;18:9-17.
    • (2001) Ultrasound Obstet Gynecol , vol.18 , pp. 9-17
    • Souka, A.P.1    Krampl, E.2    Bakalis, S.3    Heath, V.4    Nicolaides, K.H.5
  • 4
    • 0015172723 scopus 로고
    • Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms?
    • Majewski F, Pfeiffer RA, Lenz W, Müller R, Feil G, Seiler R: Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms? Z Kinderheilkd 1971;111:118-138.
    • (1971) Z Kinderheilkd , vol.111 , pp. 118-138
    • Majewski, F.1    Pfeiffer, R.A.2    Lenz, W.3    Müller, R.4    Feil, G.5    Seiler, R.6
  • 5
    • 0015291731 scopus 로고
    • Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies
    • Saldino RM, Noonan CD: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol Radium Ther Nucl Med 1972;114:257-263.
    • (1972) Am J Roentgenol Radium Ther Nucl Med , vol.114 , pp. 257-263
    • Saldino, R.M.1    Noonan, C.D.2
  • 7
    • 0036707795 scopus 로고    scopus 로고
    • Diagnostic dilemmas in the short-rib polydactyly syndrome group
    • Elcioglu NH, Hall CM: Diagnostic dilemmas in the short-rib polydactyly syndrome group. Am J Med Genet 2002;111:392-400.
    • (2002) Am J Med Genet , vol.111 , pp. 392-400
    • Elcioglu, N.H.1    Hall, C.M.2
  • 8
    • 0033961102 scopus 로고    scopus 로고
    • Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder
    • Ho NC, Francomano CA, van Allen M: Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet 2000;90:310-314.
    • (2000) Am J Med Genet , vol.90 , pp. 310-314
    • Ho, N.C.1    Francomano, C.A.2    Van Allen, M.3
  • 12
    • 0031758193 scopus 로고    scopus 로고
    • Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation
    • Hill LM, Leary J: Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation. Prenat Diagn 1998;18:1198-1201.
    • (1998) Prenat Diagn , vol.18 , pp. 1198-1201
    • Hill, L.M.1    Leary, J.2
  • 13
    • 33747205434 scopus 로고    scopus 로고
    • Nicolaides KH, Sebire N, Snijders RJ, Souka AP (eds): chap 3. New York, Parthenon Publishing
    • Nicolaides KH, Sebire N, Snijders RJ, Souka AP (eds): The 11-14-Week Scan: The Diagnosis of Fetal Abnormalities, chap 3. New York, Parthenon Publishing, 2004.
    • (2004) The 11-14-Week Scan: The Diagnosis of Fetal Abnormalities


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.