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Volumn 78, Issue 5, 2002, Pages 433-436

Johanson-Blizzard syndrome: The importance of differential diagnostic in pediatrics;Síndrome de Johanson-Blizzard: Importância do diagnóstico diferencial em pediatria

Author keywords

Abnormalities; Craniofacial abnormalities; Pancreatic insufficiency

Indexed keywords


EID: 28444462089     PISSN: 00217557     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0021-75572002000500016     Document Type: Article
Times cited : (8)

References (15)
  • 1
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    • Syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption
    • Johanson A, Blizzard R. Syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 1971;79:982-7.
    • (1971) J Pediatr , vol.79 , pp. 982-987
    • Johanson, A.1    Blizzard, R.2
  • 2
    • 84916526139 scopus 로고
    • Hypoplasia of the exocrine tissue of pancreas
    • Lumb G, Beautyman W. Hypoplasia of the exocrine tissue of pancreas. J Pathol Bacteriol 1952;64:679.
    • (1952) J Pathol Bacteriol , vol.64 , pp. 679
    • Lumb, G.1    Beautyman, W.2
  • 3
    • 52549103067 scopus 로고
    • Trypsinogen deficiency and other proteolytic deficiency disease
    • OAS
    • Townes PL. Trypsinogen deficiency and other proteolytic deficiency disease. Birth defects. OAS 1972;7(2):95-101.
    • (1972) Birth Defects , vol.7 , Issue.2 , pp. 95-101
    • Townes, P.L.1
  • 4
    • 0013953998 scopus 로고
    • Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly
    • Grand RJ, Rosen SW, Di Sant'Angnese PA, Kirkham WR. Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly. Am J Med 1966;41:478-85.
    • (1966) Am J Med , vol.41 , pp. 478-485
    • Grand, R.J.1    Rosen, S.W.2    Di Sant'Angnese, P.A.3    Kirkham, W.R.4
  • 6
    • 0019968626 scopus 로고
    • The Johanson-Blizzard syndrome
    • Baraitser M, Hodgson SV. The Johanson-Blizzard syndrome. J Med Genet 1982;19:302-3.
    • (1982) J Med Genet , vol.19 , pp. 302-303
    • Baraitser, M.1    Hodgson, S.V.2
  • 7
    • 0018601343 scopus 로고
    • The Johanson-Blizzard syndrome: Case report and autopsy findings
    • Daentl DL, Frias JL, Gilbert EF, Opitz JM. The Johanson-Blizzard syndrome: case report and autopsy findings. Am J Med Genet 1979;3:129-35.
    • (1979) Am J Med Genet , vol.3 , pp. 129-135
    • Daentl, D.L.1    Frias, J.L.2    Gilbert, E.F.3    Opitz, J.M.4
  • 9
    • 0022006452 scopus 로고
    • Brief clinical report: Johanson-Blizzard syndrome with normal intelligence
    • Moeschler JB, Lubinsky M. Brief clinical report: Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet 1985;22:69-73.
    • (1985) Am J Med Genet , vol.22 , pp. 69-73
    • Moeschler, J.B.1    Lubinsky, M.2
  • 10
    • 0017099782 scopus 로고
    • Exocrine pancreatic insufficiency with congenital anomalies
    • Shusshein A, Choi SJ, Silverberg M. Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 1976;89:782-4.
    • (1976) J Pediatr , vol.89 , pp. 782-784
    • Shusshein, A.1    Choi, S.J.2    Silverberg, M.3
  • 14
    • 0343628737 scopus 로고    scopus 로고
    • Severe intrauterine growth retardation, aged facial appearance and congenital heart disease in a newborn with Johanson-Blizzard syndrome
    • Alpay F, Gul D, Lenk Mk, Ogur G. Severe intrauterine growth retardation, aged facial appearance and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatr Cardiol 2000;21:389-90.
    • (2000) Pediatr Cardiol , vol.21 , pp. 389-390
    • Alpay, F.1    Gul, D.2    Mk, L.3    Ogur, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.