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Volumn 49, Issue 2, 1996, Pages 70-73

Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

Author keywords

Ectrodactyly; Sacral hypoplasia; Schinzel phocomelia syndrome; Skull defect; Urinary system anomaly

Indexed keywords

ARM; ARTICLE; CASE REPORT; ECHOGRAPHY; ECTRODACTYLY; FEMALE; HUMAN; HYDRONEPHROSIS; INTRAVENOUS PYELOGRAPHY; NEWBORN; PHOCOMELIA; PRIORITY JOURNAL; SACRUM; SKULL DEFECT; SYNDROME DELINEATION; URETER MALFORMATION; URINARY TRACT MALFORMATION;

EID: 0029931912     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb04330.x     Document Type: Article
Times cited : (7)

References (9)
  • 1
    • 0022002682 scopus 로고
    • Profound limb deficiency, thoracic dystrophy, unusual facies and normal intelligence: A new syndrome
    • Al-Awadi SA, Teebi AS, Farag T, Naguib KM, El-Khalifa MY. Profound limb deficiency, thoracic dystrophy, unusual facies and normal intelligence: a new syndrome. J Med Genet 1985: 22: 36-38.
    • (1985) J Med Genet , vol.22 , pp. 36-38
    • Al-Awadi, S.A.1    Teebi, A.S.2    Farag, T.3    Naguib, K.M.4    El-Khalifa, M.Y.5
  • 2
    • 0027526576 scopus 로고
    • Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): Report of two Italian sibs and further confirmation of autosomal recessive inheritance
    • Camera G, Ferraiola G, Leo D, Spaziale A, Pozzolo S. Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 1993: 30: 65-69.
    • (1993) J Med Genet , vol.30 , pp. 65-69
    • Camera, G.1    Ferraiola, G.2    Leo, D.3    Spaziale, A.4    Pozzolo, S.5
  • 3
    • 0019335975 scopus 로고
    • Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities
    • Cherstvoy E, Lazjuk G, Lurie I, Ostrovskaya T, Shved I. Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities. Lancet 1980: ii: 485.
    • (1980) Lancet , vol.2 , pp. 485
    • Cherstvoy, E.1    Lazjuk, G.2    Lurie, I.3    Ostrovskaya, T.4    Shved, I.5
  • 5
    • 0018851859 scopus 로고
    • The CHILD syndrome: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    • Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980: 134: 27-33.
    • (1980) Eur J Pediatr , vol.134 , pp. 27-33
    • Happle, R.1    Koch, H.2    Lenz, W.3
  • 6
    • 0027372241 scopus 로고
    • On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschild" syndromes
    • Lurie I, Wulfsberg EA. On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschild" syndromes. Am J Med Genet 1993: 47: 1234.
    • (1993) Am J Med Genet , vol.47 , pp. 1234
    • Lurie, I.1    Wulfsberg, E.A.2
  • 9
    • 0025218134 scopus 로고
    • Phocomelia and additional anomalies in two sisters
    • Schinzel A. Phocomelia and additional anomalies in two sisters. Hum Genet 1990: 84: 539-541.
    • (1990) Hum Genet , vol.84 , pp. 539-541
    • Schinzel, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.