Advertisement

Pediatric Radiology

, Volume 7, Issue 4, pp 220–228 | Cite as

Spondylo-epiphyseal dysplasia with ocular changes

Report of two “new” variants in two different families
  • J. J. MacDessi
  • K. Kozlowski
  • S. Posen
Originals

Abstract

Two families with “new” types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in other epiphyses. The eye complications consist of myopia, lattice degeneration of the retina, retinal detachment and cataracts. Short stature is a major feature in the first family and shortening of the hands and feet in the second.

Key words

Spondylo-epiphyseal dysplasia Osteoarthritis Myopia Retinal detachment 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Fraser, G. R., Friedmann, A. I., Maroteaux, P., Glen-Bott, A. M., Mittwoch, U.: Dysplasia spondylo epiphysearia congenita and related generalised skeletal dysplasias among children with severe visual handicaps. Arch. Dis. Child.44, 490 (1969)PubMedGoogle Scholar
  2. 2.
    Hall, J. G.: Skeletal dysplasia, retinal detachment and cataract. Birth Defects5, (1969)Google Scholar
  3. 3.
    Kozlowski, K., Lipska, E.: Hereditary dysplasia epiphysealis multiplex. Clin. Radiol.18, 330 (1967)CrossRefPubMedGoogle Scholar
  4. 4.
    Kozlowski, K., Fellmann, K., Senger, A., Prokop, E., Kuczynski, W.: Spondylo-epiphysäre Dysplasien mit Valgusdeformität der Kniegelenke. Fortschr. Geb. Roentgenstr. Nuklearmed.115, 287 (1971)Google Scholar
  5. 5.
    Kozlowski, K., Trojanowska, J.: Die dominante spondyloepiphysäre Dysplasie mit besonderer Beteiligung der Wirbelsäule. Fortschr. Geb. Roentgenstr. Nuklearmed.115, 296 (1971)Google Scholar
  6. 6.
    Kozlowski, K., Turner, G.: Stickler syndrome. Report of a second Australian family. Pediatr. Radiol.3, 230 (1975)CrossRefPubMedGoogle Scholar
  7. 7.
    Maroteaux, P., Wiedemann, R., Spranger, J., et al.: Essai de classification des dysplasies spondylo-epiphysaires. Lyon: Simep 1968Google Scholar
  8. 8.
    O'Brien, J. S., Gugler, E., Giedion, A., Wiessmann, U., Herschkowitz, N., Meier, C., Leroy, J.: Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid B-galactosidase deficiency. Clin. Genet.9, 495 (1976)PubMedGoogle Scholar
  9. 9.
    Pfeiffer, R. A., Jünemann, G., Polster, J., Bauer, H.: Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers. Clin. Genet.4, 141 (1973)PubMedGoogle Scholar
  10. 10.
    Roaf, R., Longmore, J. B., Forrester, R. M.: A childhood syndrome of bone dysplasia, retinal detachment and deafness. Dev. Med. Child. Neurol.9, 464 (1967)PubMedGoogle Scholar
  11. 11.
    Silverman, F. N., Currarino, G.: Roentgen manifestation of hereditary metabolic diseases in childhood. Metabolism9, 248 (1960)PubMedGoogle Scholar
  12. 12.
    Spranger, J., Langer, L. O.: Spondyloepiphyseal dysplasias. Birth Defects10, 19 (1974)PubMedGoogle Scholar
  13. 13.
    Spranger, J., Opitz, J. M., Bidder, U.: Heterogeneity of chondrodysplasia punctata. Hum. Genet.11, 190 (1971)CrossRefGoogle Scholar
  14. 14.
    Spranger, J., Wiedemann, H.: Dysplasia spondylo-epiphysealis congenita. Helv. Paediatr. Acta21, 598 (1966)Google Scholar

Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • J. J. MacDessi
    • 1
  • K. Kozlowski
    • 3
  • S. Posen
    • 2
  1. 1.Prince of Wales HospitalSydney
  2. 2.Sydney HospitalSydneyAustralia
  3. 3.Department of RadiologyRoyal Alexandra Hospital for ChildrenCamperdownAustralia

Personalised recommendations