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Volumn 8, Issue 5, 1996, Pages 350-354

Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type

Author keywords

Chondrodysplasia punctata; Craniofacial dysmorphism; Joint contractures; Mesomelia; Rhizomelia

Indexed keywords

ADULT; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CONGENITAL MALFORMATION; ECHOGRAPHY; FEMALE; FETUS DISEASE; FOLLOW UP; GESTATIONAL AGE; HUMAN; METACARPAL BONE; PATHOPHYSIOLOGY; PREGNANCY; PREGNANCY COMPLICATION; PREGNANCY OUTCOME; REVIEW; TIBIA;

EID: 0030278069     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1996.08050350.x     Document Type: Article
Times cited : (14)

References (14)
  • 2
    • 0025038626 scopus 로고
    • Chondrodysplasia punctata, tibia-metacarpal (MT) type
    • Rittler, M., Menger, H. and Spranger, J. (1990). Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am. J. Med. Genet., 37, 200-8
    • (1990) Am. J. Med. Genet. , vol.37 , pp. 200-208
    • Rittler, M.1    Menger, H.2    Spranger, J.3
  • 4
    • 0025375080 scopus 로고
    • Rhizomelic chondrodysplasia punctata and survival beyond one year: A review of the literature and five case reports
    • Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J. and Moser, A. (1990). Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin. Genet., 38, 84-93
    • (1990) Clin. Genet. , vol.38 , pp. 84-93
    • Wardinsky, T.D.1    Pagon, R.A.2    Powell, B.R.3    McGillivray, B.4    Stephan, M.5    Zonana, J.6    Moser, A.7
  • 5
    • 34249922038 scopus 로고
    • Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth
    • Lenti, C., Paganoni, P. and Sangermani, R. (1991). Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. Ital. J. Neurol. Sci., 12, 469-73
    • (1991) Ital. J. Neurol. Sci. , vol.12 , pp. 469-473
    • Lenti, C.1    Paganoni, P.2    Sangermani, R.3
  • 7
    • 0022234276 scopus 로고
    • Lethal neonatal chondrodysplasias in the west of Scotland (1970-1983) with description of a thanatophoric dysplasia-like, autosomal recessive disorder. Glasgow variant
    • Connor, J. M., Connor, R. A. C., Sweet, E. M., Gibson, A. A. M., Patrick, W. J. A., McNay, M. B. and Redford, D. H. A. (1985). Lethal neonatal chondrodysplasias in the west of Scotland (1970-1983) with description of a thanatophoric dysplasia-like, autosomal recessive disorder. Glasgow variant. Am. J. Med. Genet., 22, 243-53
    • (1985) Am. J. Med. Genet. , vol.22 , pp. 243-253
    • Connor, J.M.1    Connor, R.A.C.2    Sweet, E.M.3    Gibson, A.A.M.4    Patrick, W.J.A.5    McNay, M.B.6    Redford, D.H.A.7
  • 8
    • 0024997393 scopus 로고
    • Prenatal diagnosis of chondrodysplasia punctata by sonography
    • Duff, P., Harlass, F. E. and Milligan, D. A. (1990). Prenatal diagnosis of chondrodysplasia punctata by sonography. Obstet. Gynecol., 76, 497-500
    • (1990) Obstet. Gynecol. , vol.76 , pp. 497-500
    • Duff, P.1    Harlass, F.E.2    Milligan, D.A.3
  • 9
    • 0028205583 scopus 로고
    • Rhizomelic chondrodysplasia punctata: Early recognition with antenatal ultrasonography
    • Gendall, P. W., Baird, C. E. and Becroft, D. M. (1994). Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. J. Clin. Ultrasound, 22, 271-4
    • (1994) J. Clin. Ultrasound , vol.22 , pp. 271-274
    • Gendall, P.W.1    Baird, C.E.2    Becroft, D.M.3
  • 11
    • 0020532558 scopus 로고
    • Fetal ascites associated with Conradi's disease (chondrodysplasia punctata): Report of a case
    • Straub, W., Zarabi, M. and Mazer, J. (1983). Fetal ascites associated with Conradi's disease (chondrodysplasia punctata): report of a case. J. Clin. Ultrasound, 11, 234-6
    • (1983) J. Clin. Ultrasound , vol.11 , pp. 234-236
    • Straub, W.1    Zarabi, M.2    Mazer, J.3
  • 12
    • 0028131650 scopus 로고
    • Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida
    • Sastrowijoto, S. H., Vandenberghe, K., Moerman, P., Lauweryns, J. M. and Fryns, J. P. (1994). Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. Prenat. Diagn., 14, 770-6
    • (1994) Prenat. Diagn. , vol.14 , pp. 770-776
    • Sastrowijoto, S.H.1    Vandenberghe, K.2    Moerman, P.3    Lauweryns, J.M.4    Fryns, J.P.5
  • 13
    • 0025885575 scopus 로고
    • Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humerometacarpal (HM) type: variation or heterogeneity?
    • Borochowitz, Z. (1991). Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humerometacarpal (HM) type: variation or heterogeneity? Am. J. Med. Genet., 41, 417-22
    • (1991) Am. J. Med. Genet. , vol.41 , pp. 417-422
    • Borochowitz, Z.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.