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Johanson-Blizzard syndrome

Progression of pancreatic involvement in adulthood

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References

  1. Johanson AJ, Blizzard RM: A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption. J Pediatr 79:982–987, 1971

    Google Scholar 

  2. Morris MD, Fisher DA: Trypsinogen deficiency disease. Am J Dis Child 114:203–208, 1967

    Google Scholar 

  3. Townes PL: Proteolytic and lypolytic deficiency of the exocrine pancreas. J Pediatr 75:221–228, 1969

    Google Scholar 

  4. Townes PL, White MR: Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas and congenital anomalies. Am J Dis Child 135:248–250, 1981

    Google Scholar 

  5. Daentl DL, Frias JL, Gilbert EF, Opitz JM: The Johanson-Blizzard syndrome. Case report and autopsy findings. Am J Med Genet 3:129–135, 1979

    Google Scholar 

  6. Moeschler JB, Polak MJ, Jenkins JJ, Amato RSS: The Johanson-Blizzard syndrome: A second report of full autopsy findings. Am J Med Genet 26:133–138, 1987

    Google Scholar 

  7. Sismansis MD, Polisar IA, Ruffy ML, Lambert JC: Rare congenital syndrome associated with profound hearing loss. Arch Otolaryngol 105:222–224, 1979

    Google Scholar 

  8. Moeschler JB, Lubinsky MS: Brief clinical report: Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet 22:69–73, 1985

    Google Scholar 

  9. Schussheim A, Choi SJ, Silverberg M: Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 89:782–784, 1976

    Google Scholar 

  10. Day DW, Israel JN: Johanson-Blizzard syndrome. Birth Defects 14(6B):275–287, 1978

    Google Scholar 

  11. Townes PL: Trypsinogen deficiency and other proteolytic deficiency diseases. Birth Defects 8(2):95–101, 1972

    Google Scholar 

  12. Baraitser, M, Hodgson SV: The Johanson-Blizzard syndrome. J Med Genet 19:302–303, 1982

    Google Scholar 

  13. Mardini MK, Ghandown I, Sakati NA, Nyhan WL: Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 14:247–250, 1978

    Google Scholar 

  14. Zerres K, Holtgrave EA: The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. Clin Genet 30:177–183, 1986

    Google Scholar 

  15. Helin I, Jodal U: A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. J Pediatr 99:932–934, 1981

    Google Scholar 

  16. Gorlin RJ, Meskin LH, St Geme JW: Oculodentodigital dysplasia. J Pediatr 63:69–75, 1963

    Google Scholar 

  17. Adams FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 36:3–7, 1945

    Google Scholar 

  18. Bresson JL, Schmitz J, Saudubray JM, Lesec G, Hummel JA, Rey J: Le syndrome de Johanson-Blizzard. Une autre cause de lipomatose pancreatique. Arch Fr Pediatr 37:21–24, 1980

    Google Scholar 

  19. Hurst JA, Baraitser M: Johanson-Blizzard syndrome. J Med Genet 26:45–48, 1989

    Google Scholar 

  20. National Institute of Arthritis, Metabolism, and Digestive Diseases: Cystic Fibrosis: A Disease in Search of Ideas. Clinical Sciences, Vol 2. Bethesda, Maryland, National Institutes of Health, DHEW publication No. NIHD 79-1643, 1979, pp 33–34

  21. Rodman HM, Doershuk CF, Roland JM: The interaction of 2 diseases: diabetes mellitus and cystic fibrosis. Medicine 65:389–397, 1986

    Google Scholar 

  22. Forstner G: The exocrine pancreas.In Nelson Textbook of Pediatrics, 13th ed. RE Behrman, VC Vaughan, WE Nelson (eds). Philadelphia, WB Saunders, 1987, pp 818–819

    Google Scholar 

  23. Howard CP, Go VLW, Infante AJ, Perrault J, Gerich JE, Haymond MW: Long-term survival in a case of functional pancreatic agenesis. J Pediatr 97:786–789, 1980

    Google Scholar 

  24. Ghishan FK, Lee PC, Lebenthal E, Johnson P, Bradley CA, Greene HL: Isolated congenital enterokinase deficiency. Gastroenterology 85:727–731, 1983

    Google Scholar 

  25. Boat TF, Welsh MJ, Beaudet AL: Cystic fibrosis.In The Metabolic Basis of Inherited Disease, 6th ed. CR Scriver, AL Beaudet, WS Sly, D Valle (eds). New York, McGraw-Hill, 1989, pp 2649–2880

    Google Scholar 

  26. Aggett PF, Cavanagh NPC, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT: Shwachman's syndrome. Arch Dis Child 55:331–347, 1980

    Google Scholar 

  27. Pearson HA, Lobel JS, Kocoshis SA, Naiman JF, Windmiller J, Lammi AT, Hoffman R, Marsh JC. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976–984, 1979

    Google Scholar 

  28. Frase LL, Strickland AD, Kachel GW, Krejs GJ: Enhananced glucose absorption in the jejunum of patients with cystic fibrosis. Gastroenterology 88:478–484

  29. Flick JA, Schnaar RL, Perman JA: Thin-layer chromatographic determination of urinary excretion of lactulose, simplified and applied to cystic fibrosis patients. Clin Chem 33:1211–1212, 1987

    Google Scholar 

  30. Perman JA, Flick JA, Kinnear JM, Ellis LE, Durie PR: Measurement of intestinal lactulose permeation detects mild pancreatic dysfunction. Gastroenterology 94:A350, 1988

    Google Scholar 

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Supported in part by NIH grant AM07130 from the United States Public Health Service.

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Trellis, D.R., Clouse, R.E. Johanson-Blizzard syndrome. Digest Dis Sci 36, 365–369 (1991). https://doi.org/10.1007/BF01318210

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  • DOI: https://doi.org/10.1007/BF01318210

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