Skip to main content
Log in

The temporal bone in the Johanson-Blizzard syndrome

A CT study

  • Originals
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

The findings of thin-section high-resolution CT of the temporal bone in two children with Johanson-Blizzard syndrome are reported. In both cases an anomaly of the inner ear was found, consisting of bilateral cystic dilatation of the cochlea and the vestibulum. The possible etiologic basis for the hearing loss in this syndrome is discussed and the literature is reviewed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Johanson A, Blizzard R (1971) A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 79: 982

    PubMed  Google Scholar 

  2. Lumb G, Beautyman W (1952) Hypoplasia of the exocrine tissue of the pancreas. J Pathol Bacteriol 54: 679

    Google Scholar 

  3. Grand RJ, Rosen SW, DiSant'Agnese PA, Kirkham WR (1966) Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly. Am J Med 4: 478

    Google Scholar 

  4. Morris MD, Fisher DA (1967) Trypsinogen deficiency disease. Am J Dis Child 114: 203

    PubMed  Google Scholar 

  5. Townes PL (1969) Proteolytic and lipolytic deficiency of the exocrine pancreas. J Pediatr 75: 221

    PubMed  Google Scholar 

  6. Schussheim A, Choi SJ, Silverberg M (1976) Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 89: 782

    PubMed  Google Scholar 

  7. Day DW, Israel JN (1978) Johanson-Blizzard Syndrome. Birth Defects XIV: 275

    Google Scholar 

  8. Mardini MK, Ghandour M, Sakati NA, Nyhan WL (1978) Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 14: 247

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  10. Reichart P, Flatz S, Burdelski R (1979) Ektodermale Dysplasie und exokrine Pancreasinsuffizienz — ein erblich bedingtes Syndrom. Dtsch Zahnarztl Z 34: 263

    PubMed  Google Scholar 

  11. Sismanis A, Polisar IA, Ruffy ML, Lambert JC (1979) Rare congenital syndrome with profound hearing loss. Arch Otolaryngol 105: 222

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  13. Helin I, Jodal U (1981) Asyndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. J Pediatr 99: 932

    PubMed  Google Scholar 

  14. Motohashi N, Pruzansky S, Day D (1981) Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome. J Craniofac Genet Dev Biol, 1: 57

    PubMed  Google Scholar 

  15. Baraitser M, Hodgson SV (1982) The Johanson-Blizzard syndrome. J Med Genet 19: 302

    PubMed  Google Scholar 

  16. Moeschler JB, Lubinsky ML (1985) Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet 22: 69

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  18. Moeschler JB, Polak MJ, Jenkins JL III, Amato RS (1987) The Johanson-Blizzard syndrome: a second report of full autopsy findings. Am J Med Genet 26: 133

    PubMed  Google Scholar 

  19. Ono K, Ogawa T, Matsuda N (1987) Oral findings in Johanson-Blizzard syndrome. J Oral Med 42: 14

    PubMed  Google Scholar 

  20. Kristjansson K, Hoffman WH, Flannery DB, Cohen MJ (1988) Johanson-Blizzard syndrome and hypopituitarism. J Pediatr 113: 851

    PubMed  Google Scholar 

  21. Gershoni-Baruch R, Lerner A, Braun J, Katzir Y, Iancu TC, Benderly A (1990) Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. Am J Med Genet 35: 546

    PubMed  Google Scholar 

  22. Swartz J (ed) (1986) Imaging of the temporal bone. Thieme, New York, p 146

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Braun, J., Lerner, A. & Gershoni-Baruch, R. The temporal bone in the Johanson-Blizzard syndrome. Pediatr Radiol 21, 580–583 (1991). https://doi.org/10.1007/BF02012603

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02012603

Keywords

Navigation