Advertisement

Virchows Archiv A

, Volume 357, Issue 3, pp 199–212 | Cite as

The cloverleaf skull syndrome

Histological, histochemical and ultrastructural findings
  • E. Bonucci
  • F. Nardi
Article

Summary

A histological, histochemical and ultrastructural study of a case of the clover-leaf skull syndrome is presented. It involved pronounced trilobed deformation of the skull associated with synostosis of the lambdoidal and sagittal sutures, hydrocephalus, downward displacement of the ears, hypertelorism, exophthalmus, a sunken nasal root and antimongoloid slant of the eyes. Shortening and bending of the limbs, narrowing of the chest, and deformation of the feet completed the picture.

Histologically, evident abnormality of the cartilage was found both in the sphenoidal and vertebral bodies and in the chondro-osseous junctions of the ribs. These zones were not seriated and contained only rounded, seemingly degenerating, disarrayed chondrocytes. The intercellular matrix was strongly PAS-positive. It stained irregularly and in general less deeply than in normal subjects after treatment with Toluidine blue, Alcian blue and colloidal iron. Moreover, both the cartilage and bone matrix contained collagen fibrils of highly variable thickness. In both these matrices the process of calcification was irregular and slightly retarded.

It is suggested that the cloverleaf skull syndrome essentially depends upon a chondrodystrophic condition which involves the base of the skull and may be generalized, as in the present case, or limited to one skeletal area, as sometimes reported in the literature.

Keywords

Fibril Hydrocephalus Vertebral Body Toluidine Bone Matrix 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Ali, S. Y., Anderson, H. C., Sajdera, S. W.: Enzymic and electron-microscopic analysis of extracellular matrix vesicles associated with calcification in cartilage. Biochem. J. 122, 56P (1971).Google Scholar
  2. Ali, S. Y., Sajdera, S. W., Anderson, H. C.: Isolation and characterization of calcifying matrix vesicles from epiphyseal cartilage. Proc. nat. Acad. Sci. (Wash.) 67, 1513–1520 (1970).Google Scholar
  3. Anderson, H. C.: Vesicles associated with calcification in the matrix of epiphyseal cartilage. J. Cell Biol. 41, 59–72 (1969).Google Scholar
  4. Anderson, H. C., Matsuzawa, T., Sajdera, S. W., Ali, S. Y.: Membranous particles in calcifying cartilage matrix. Trans. N.Y. Acad. Sci. 32, 619–630 (1970).Google Scholar
  5. Angle, C. R., McIntire, M. S., Moore, R. C.: Cloverleaf skull: Kleeblattschädel-deformity syndrome. Amer. J. Dis. Child. 114, 198–202 (1967).Google Scholar
  6. Ascenzi, A.: Interferenze di sviluppo tra cranio ed encefalo in un caso di acrocefalosindattilia. Riv. Antropol. 44, 69–100 (1957).Google Scholar
  7. Bonucci, E.: Fine structure of early cartilage calcification. J. Ultrastruct. Res. 20, 33–50 (1967).Google Scholar
  8. Bonucci, E.: Fine structure and histochemistry of “calcifying globules” in epiphyseal cartilage. Z. Zellforsch. 103, 192–217 (1970).Google Scholar
  9. Bonucci, E.: The locus of initial calcification in cartilage and bone. Clin. Orthop. 78, 108–139 (1971).Google Scholar
  10. Burkhardt, L., Fisher, H.: Pathologische Anatomie des Schädels. In: Handbuch der speziellen pathologischen Anatomie und Histologie, Bewegungsapparat (E. Uehlinger, Hrsg.), S. 116–117. Berlin-Heidelberg-New York: Springer 1970.Google Scholar
  11. Comings, D. E.: The Kleeblattschädel syndrome — a grotesque form of hydrocephalus. J. Pediat. 67, 126–129 (1965).Google Scholar
  12. Feingold, M., O'Connor, J. F., Berkman, M., Darling, D. B.: Kleeblattschädel syndrome. Amer. J. Dis. Child. 118, 589–594 (1969).Google Scholar
  13. Göthlin, G., Ericsson, J. L. E.: Fine structural localization of alkaline phosphomonoesterase in the fracture callus of the rat. Israel J. med. Sci. 7, 488–490 (1971).Google Scholar
  14. Holtermüller, K., Wiedemann, H.-R.: Kleeblattschädel-Syndrom. Med. Mschr. 14, 439–446 (1960).Google Scholar
  15. Kimura, I.: Observations on the fine structure of the growth plate in hypophysectomized rabbits and thyro-parathyroidectomized rabbits. Yonago Acta med. 13, 208–227 (1969).Google Scholar
  16. Liebaldt, G.: Das „Kleeblatt“-Schädel-Syndrom, als Beitrag zur formalen Genese der Entwicklungsstörungen des Schädeldaches. Ergebn. allg. Path. path. Anat. 45, 23–28 (1964).Google Scholar
  17. Lowther, D. A.: Chemical aspects of collagen fibrillogenesis. Int. Rev. Connect. Tiss. Res. 1, 63–125 (1963).Google Scholar
  18. Lowther, D. A., Toole, B. P., Herrington, A. C.: Interaction of proteoglycans with tropocollagen. In: Chemistry and molecular biology of the intercellular matrix (E. A. Balazs, ed.), vol. 2, p. 1135. London-New York: Academic Press 1970.Google Scholar
  19. Maroteaux, P., Lamy, M., Robert, J.-M.: Le nanisme thanatophore. Presse méd. 75, 2519–2524 (1967).Google Scholar
  20. Matsuzawa, T., Anderson, H. C.: Phosphatases of epiphyseal cartilage studied by electron microscopic cytochemical methods. J. Histochem. Cytochem. 19, 801–808 (1971).Google Scholar
  21. Matukas, V. J., Krikos, G. A.: Evidence for changes in protein polysaccharide associated with the onset of calcification in cartilage. J. Cell Biol. 39, 43–48 (1968).Google Scholar
  22. Millonig, G.: Further observations on a phosphate buffer for osmium solutions in fixation. In: Electron microscopy. Fifth Intern. Congr. on Electron Microscopy, vol. 2, p. P-8. New York-London: Academic Press 1962.Google Scholar
  23. Moscatelli, P., Gilli, G., Perfumo, F.: Su un raro caso di sinostosi intra-uterina delle suture coronarie e lambdoidee: suoi possibili rapporti con la sindrome di Holtermüller e Wiedemann. Clin. Pediat. 50, 972–978 (1968).Google Scholar
  24. Moss, L.: The pathogenesis of premature synostosis in man. Acta anat. (Basel) 37, 351–371 (1959).Google Scholar
  25. Nawalkha, P. L., Mangal, H. N.: Kleeblattschädel deformity syndrome. Indian J. Pediat. 37, 478–480 (1970).Google Scholar
  26. Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., Wollin, D. G.: Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship. Arch. Dis. Childh. 46, 656–664 (1971).Google Scholar
  27. Ponseti, I. V.: Skeletal growth in achondroplasia. J. Bone Jt Surg. A 52, 701–716 (1970).Google Scholar
  28. Potter, E. L.: Pathology of the fetus and the newborn. Chicago: Year Book Publishers 1953.Google Scholar
  29. Riede, U. N., Villiger, W., Schenk, R. K.: Ultrastrukturelle Untersuchung der Epiphysenfuge rachitischer Ratten nach Darstellung der Mucopolysaccharide mit Ruthenium-rot. Virchows Arch. Abt. B 7, 114–125 (1971).Google Scholar
  30. Rimoin, D. L., Hughes, G. N., Kaufman, R. L., Rosenthal, R. E., McAlister, W. H., Silberberg, R.: Endochondral ossification in achondroplastic dwarfism. New Engl. J. Med. 283, 728–735 (1970).Google Scholar
  31. Rubin, P.: Dynamic calcification of bone dysplasias. Chicago: Year Book Medical Publishers 1964.Google Scholar
  32. Schenk, R. K., Müller, J., Zinkernagel, R., Willenegger, H.: Ultrastructure of normal and abnormal bone repair. Calcif. Tiss. Res. 4 (Suppl.), 110–111 (1970).Google Scholar
  33. Schuch, A., Pesch, H.-J.: Beitrag zum Kleeblattschädel-Syndrom. Z. Kinderheilk. 109, 187–198 (1971).Google Scholar
  34. Smith, J. W.: The disposition of proteinpolysaccharide in the epiphyseal plate cartilage of the young rabbit. J. Cell Sci. 6, 843–864 (1970).Google Scholar
  35. Stanesco, V., Bona, C., Ionesco, V., Gottlieb, F.: Recherches histochimiques et histoenzymologiques sur le cartilage des croissance tibial de l'achondroplasie humaine. Rev. franç. Étud. clin. biol. 11, 600–610 (1966).Google Scholar
  36. Thyberg, J.: Ultrastructural localization of aryl sulfatase activity in the epiphyseal plate. J. Ultrastruct. Res. 38, 332–342 (1972).Google Scholar
  37. Thyberg, J., Friberg, U.: Ultrastructure and acid phosphatase activity of matrix vesicles and cytoplasmic dense bodies in the epiphyseal plate. J. Ultrastruct. Res. 33, 554–573 (1970).Google Scholar
  38. Weinmann, J. P., Sicher, H.: Bone and bones. Fundamentals of bone biology. London: Henry Kimpton 1955.Google Scholar
  39. Wollin, D. G., Binnington, V. I., Partington, M. W.: Cloverleaf skull. J. Ass. Canad. Radiol. 19, 148–154 (1968).Google Scholar
  40. Wood, G. C.: The precipitation of collagen fibers from solution. Intern. Rev. Connect. Tiss. Res. 2, 1–31 (1964).Google Scholar

Copyright information

© Springer-Verlag 1972

Authors and Affiliations

  • E. Bonucci
    • 1
  • F. Nardi
    • 1
  1. 1.Istituto di Anatomia ed Istologia PatologicaUniversity of RomeItaly

Personalised recommendations