Pediatric Radiology

, Volume 8, Issue 1, pp 32–38

Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes

  • A. Giedion
Originals

Abstract

The phalangeal cone shaped epiphysis of the hands (PhCSEH1) observed in the extended Saldino-Mainzer syndrome (SMS), including nephronophthisis, are typed in accordance with standard tables. Of the more than 40 known types, type 28 and/or 28A were found in all eight cases available for analysis, frequently also associated with types 38, 38A, 37 and others. Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis combined with dwarfism. The striking similarity of the PhCSEH formula in our eight cases and of some cases of ATD, all suffering from chronic renal disease, suggests a common pathogenetic pathway of these conditions. The collective name of “conorenal syndromes” is suggested.

Key words

Cone shaped epiphysis Peripheral dysostosis Renal disease Nephronophthisis 

Abbrevations used in this article

AS

Aortic stenosis

ATD

Asphyxiating thoracic dysplasia

CSE

Coneshaped epiphysis

EvCS

Ellis-van Creveld syndrome

NPS

Nephronophthisis

PD

Peripheral dysostosis

PhCSEH

Phalangeal cone shaped epiphysis of the hand

SMS

Saldino-Mainzer syndrome

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literature

  1. 1.
    Beals, R. K.: Personal Communication 1977Google Scholar
  2. 2.
    Bellini, F., Bardare, M.: Su un caso di disostosi periferica. Minerva Pediatr.18, 106 (1966)PubMedGoogle Scholar
  3. 3.
    Chakera, T. M. H.: Peripheral dysotosis associated with juvenile nephronophthisis. Br. J. Radiol.48, 765 (1975)PubMedGoogle Scholar
  4. 4.
    Diekmann, L., Louis, C., Schulte-Kemna, E.: Familiäre Nephropathie mit Retinitis pigmentosa. Helv. Paediatr. Acta32, 375 (1977)PubMedGoogle Scholar
  5. 5.
    Fredensborg, N.: The Spherical Index. A measure of the rondness of the femoral head. Acta Radiol. [Diagn.] (Stockh.)18, 685 (1977)Google Scholar
  6. 6.
    Giedion, A.: Zapfenepiphysen — Naturgeschichte und diagnostische Bedeutung einer Störung des enchondralen Wachstums. Ergeb. Med. Strahlenforsch.1, 59–124 (1968)Google Scholar
  7. 7.
    Giedion, A.: Acrodysplasias — cone-shaped epiphyses, peripheral dysostosis, Thiemann's disease and acrodysostosis. Prog. Pediatr. Radiol.4, 325 (1973)Google Scholar
  8. 8.
    Giedion, A.: Acrodysplasias. Peripheral dysostosis, acrodysostosis and Thiemann's disease. Clin. Orthop.114, 107 (1976)PubMedGoogle Scholar
  9. 9.
    Gruskin, A. B., Baluarte, H. J., Cote, M. L., Elfenbein, I. B.: The renal disease of thoracic asphyxiant dystrophy. Birth Defects10, 44 (1974)PubMedGoogle Scholar
  10. 10.
    Jéquier, S.: Personal Communication 1977Google Scholar
  11. 11.
    Kaufmann, H. J., Steinmann, A., Rösli, A. U.: Ghost cone shaped epiphyses in a new type of peripheral acromelic metaphyseal chondrodysplasia. Ann. Radiol. (Paris)21, 105 (1978)Google Scholar
  12. 12.
    Kleinknecht, C., Broyer, M., Habib, R.: Néphronophtise juvénile. Rev. Pediatr.13, 441 (1977)Google Scholar
  13. 13.
    Langer, L. O.: Thoracic-pelvic phalangeal dystrophy of the newborn, infantile thoracic dystrophy. Radiology91, 447 (1968)Google Scholar
  14. 14.
    Mainzer, F., Saldino, R. M., Ozonoff, M. B., Minagi, H.: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am. J. Med.49, 556 (1970)PubMedGoogle Scholar
  15. 15.
    Oberklaid, F., Danks, D. M., Mayne, V., Campbell, P.: Asphyxiating thoracic dysplasia: clinical, radiological and pathological information on 10 patients. Arch. Dis. Child.52, 758 (1977)PubMedGoogle Scholar
  16. 16.
    Peña, J.: Disostosis metafisaria. Una revisión. Con aportación de una observación familiar. Una forma nueva de la enfermedad? Radiologia (Madrid)47, 3 (1965)Google Scholar
  17. 17.
    Poznanski, A. K.: The hand in radiologic diagnosis. Philadelphia: W. B. Saunders 1974Google Scholar
  18. 18.
    Popović-Rolović, M., Čalić-Perišić, G., Bunjevački, G., Negovanović, D.: Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Arch. Dis. Child.51, 801 (1976)PubMedGoogle Scholar
  19. 19.
    Rawson, S. P.: Personal Communication 1965Google Scholar
  20. 20.
    Rawson, P.: Personal Communication 1969Google Scholar
  21. 21.
    Rawson, P.: Personal Communication 1975Google Scholar
  22. 22.
    Robins, D. G., French, T. A., Chakera, T. M. H.: Juvenile-ne phronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch. Dis. Child.51, 799 (1976)PubMedGoogle Scholar
  23. 23.
    Saldino, R. M., Mainzer, F.: Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa. Radiology98, 39 (1971)PubMedGoogle Scholar
  24. 24.
    Senior, B.: Familial renal-retinal dystrophy: Am. J. Dis. Child.125, 442 (1973)PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • A. Giedion
    • 1
    • 2
  1. 1.Department of Diagnostic RadiologyUniversity Children's HospitalZürichSwitzerland
  2. 2.RontgenabteilungUniversitäts-KinderklinikZürichSwitzerland

Personalised recommendations