Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1989 Jan;26(1):45–48. doi: 10.1136/jmg.26.1.45

Johanson-Blizzard syndrome.

J A Hurst 1, M Baraitser 1
PMCID: PMC1015535  PMID: 2645405

Full text

PDF
45

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baraitser M., Hodgson S. V. The Johanson-Blizzard syndrome. J Med Genet. 1982 Aug;19(4):302–303. doi: 10.1136/jmg.19.4.302. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bresson J. L., Schmitz J., Saudubray J. M., Lesec G., Hummel J. A., Rey J. Le syndrome de Johanson-Blizzard. Une autre cause de lipomatose pancréatique. Arch Fr Pediatr. 1980 Jan;37(1):21–24. [PubMed] [Google Scholar]
  3. Daentl D. L., Frías J. L., Gilbert E. F., Opitz J. M. The Johanson-Blizzard syndrome: case report and autopsy findings. Am J Med Genet. 1979;3(2):129–135. doi: 10.1002/ajmg.1320030203. [DOI] [PubMed] [Google Scholar]
  4. Day D. W., Israel J. N. Johanson--Blizzard syndrome. Birth Defects Orig Artic Ser. 1978;14(6B):275–287. [PubMed] [Google Scholar]
  5. GORLIN R. J., MISKIN L. H., St GEME J. W. Oculodentodigital dysplasia. J Pediatr. 1963 Jul;63:69–75. doi: 10.1016/s0022-3476(63)80304-2. [DOI] [PubMed] [Google Scholar]
  6. Helin I., Jodal U. A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. J Pediatr. 1981 Dec;99(6):932–934. doi: 10.1016/s0022-3476(81)80026-1. [DOI] [PubMed] [Google Scholar]
  7. Johanson A., Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr. 1971 Dec;79(6):982–987. doi: 10.1016/s0022-3476(71)80194-4. [DOI] [PubMed] [Google Scholar]
  8. Mardini M. K., Ghandour M., Sakati N. A., Nyhan W. L. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet. 1978 Nov;14(5):247–250. doi: 10.1111/j.1399-0004.1978.tb02141.x. [DOI] [PubMed] [Google Scholar]
  9. Moeschler J. B., Lubinsky M. S. Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet. 1985 Sep;22(1):69–73. doi: 10.1002/ajmg.1320220107. [DOI] [PubMed] [Google Scholar]
  10. Moeschler J. B., Polak M. J., Jenkins J. J., 3rd, Amato R. S. The Johanson-Blizzard syndrome: a second report of full autopsy findings. Am J Med Genet. 1987 Jan;26(1):133–138. doi: 10.1002/ajmg.1320260120. [DOI] [PubMed] [Google Scholar]
  11. Morris M. D., Fisher D. A. Trypsinogen deficiency disease. Am J Dis Child. 1967 Aug;114(2):203–208. doi: 10.1001/archpedi.1967.02090230133019. [DOI] [PubMed] [Google Scholar]
  12. Schussheim A., Choi S. J., Silverberg M. Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr. 1976 Nov;89(5):782–784. doi: 10.1016/s0022-3476(76)80806-2. [DOI] [PubMed] [Google Scholar]
  13. Sismanis A., Polisar I. A., Ruffy M. L., Lambert J. C. Rare congenital syndrome associated with profound hearing loss. Arch Otolaryngol. 1979 Apr;105(4):222–224. doi: 10.1001/archotol.1979.00790160056015. [DOI] [PubMed] [Google Scholar]
  14. Townes P. L. Proteolytic and lipolytic deficiency of the exocrine pancreas. J Pediatr. 1969 Aug;75(2):221–228. doi: 10.1016/s0022-3476(69)80392-6. [DOI] [PubMed] [Google Scholar]
  15. Townes P. L., White M. R. Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies. Am J Dis Child. 1981 Mar;135(3):248–250. [PubMed] [Google Scholar]
  16. Zerres K., Holtgrave E. A. The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. Clin Genet. 1986 Sep;30(3):177–183. doi: 10.1111/j.1399-0004.1986.tb00592.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES