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Volumn 34, Issue 6, 1997, Pages 518-519

Lethal femoral-facial syndrome: A case with unusual manifestations

Author keywords

Corpus callosum; Femoral facial syndrome; Pierre Robin sequence; Prenatal diagnosis

Indexed keywords

ARTICLE; BONE MARROW HYPOPLASIA; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; FACE MALFORMATION; FEMOROFACIAL SYNDROME; FEMUR; FETUS; HETEROTOPIA; HUMAN; HUMAN TISSUE; INTESTINE MALFORMATION; LUNG MALFORMATION; MALE; MALFORMATION SYNDROME; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROGNATHIA; ULTRASOUND; VERTEBRA MALFORMATION;

EID: 0030919596     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.6.518     Document Type: Article
Times cited : (17)

References (8)
  • 2
    • 0029058966 scopus 로고
    • Femoral facial syndrome. Prenatal diagnosis - Autosomal dominant inheritance
    • Robinow M, Sonek J, Buttino L, Veghte A. Femoral facial syndrome. Prenatal diagnosis - autosomal dominant inheritance. Am J Med Genet 1995;57:397-9.
    • (1995) Am J Med Genet , vol.57 , pp. 397-399
    • Robinow, M.1    Sonek, J.2    Buttino, L.3    Veghte, A.4
  • 4
    • 0018853665 scopus 로고
    • Dominant inheritance of femoral hypoplasia-unusual facies syndrome
    • Lampert RP. Dominant inheritance of femoral hypoplasia-unusual facies syndrome. Clin Genet 1980;17:255-8.
    • (1980) Clin Genet , vol.17 , pp. 255-258
    • Lampert, R.P.1
  • 5
    • 0022587985 scopus 로고
    • The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia and unilobar lungs
    • Donnai D, Young ID, Owen WG, Clark SA, Miller PFW, Knox WF. The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia and unilobar lungs. J Med Genet 1986;23:64-71.
    • (1986) J Med Genet , vol.23 , pp. 64-71
    • Donnai, D.1    Young, I.D.2    Owen, W.G.3    Clark, S.A.4    Miller, P.F.W.5    Knox, W.F.6
  • 6
    • 10244275038 scopus 로고
    • A new(?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis
    • Char F, Readinger RI, McConnell JR, McCoy JR. A new(?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis. Proc Greenwood Genet Center 1981;6:174-7.
    • (1981) Proc Greenwood Genet Center , vol.6 , pp. 174-177
    • Char, F.1    Readinger, R.I.2    McConnell, J.R.3    McCoy, J.R.4
  • 7
    • 0019867929 scopus 로고
    • Extensive congenital malformations in two siblings. Maternal prediabetes or a new syndrome?
    • Verloove-Vanhoorick SP, Brubbakk AM, Ruys JH. Extensive congenital malformations in two siblings. Maternal prediabetes or a new syndrome? Acta Paediatr Scand 1981;70:767-9.
    • (1981) Acta Paediatr Scand , vol.70 , pp. 767-769
    • Verloove-Vanhoorick, S.P.1    Brubbakk, A.M.2    Ruys, J.H.3
  • 8
    • 0027428564 scopus 로고
    • Femoral hypoplasia-unusual facies syndrome: Prenatal ultrasonographic observations
    • Tadmor OP, Hammermann C, Rabinowitz R, et al. Femoral hypoplasia-unusual facies syndrome: prenatal ultrasonographic observations. Fetal Diagn Ther 1993;8:279-84.
    • (1993) Fetal Diagn Ther , vol.8 , pp. 279-284
    • Tadmor, O.P.1    Hammermann, C.2    Rabinowitz, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.