Skip to main content
SpringerLink
Log in

Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies

Case report and review

  • Published:
Zeitschrift für Kinderheilkunde Aims and scope Submit manuscript

Abstract

This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.

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

Access this article

Log in via an institution

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. Angle, C. R., McIntire, M. S., Moore, R. C.: Cloverleaf skull: Kleeblattschädel-deformity syndrome. Amer. J. Dis. Child. 114, 198 (1967)

    Google Scholar 

  2. Arseni, C., Horvath, L., Ciurea, V.: Cloverleaf skull. Acta neurochir. (Wien) 27, 223 (1972)

    Google Scholar 

  3. Asnes, R. S., Morehead, C. D.: Pfeiffer syndrome. Birth Defects Original Article Series V/3, 198 (1969)

    Google Scholar 

  4. Bloomfield, J. A.: Cloverleaf skull and thanatophoric dwarfism. Aust. Radiol. 14, 429 (1970)

    Google Scholar 

  5. Bonucci, E., Nardi, F.: The cloverleaf skull syndrome. Histological, histochemical and ultrastructural findings. Virchows Arch. Abt. A. path. Anat. 357, 199 (1972)

    Google Scholar 

  6. Büttner, H. H.: Über Ankylosen beim “Kleeblatt”-Schädelsyndrom. Zbl. allg. Path. 113, 383 (1970)

    Google Scholar 

  7. Cohen, M. M.: The Kleeblattschädel phenomenon: sign or syndrome? Amer. J. Dis. Child. 124, 944 (1972)

    Google Scholar 

  8. Cohen, M. M.: An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects Original Article Series (in press, 1974)

  9. Comings, D. E.: The Kleeblattschädel syndrome — a grotesque form of hydrocephalus. J. Pediat. 67, 126 (1965)

    Google Scholar 

  10. Degenhardt, K. H.: Zum entwicklungsmechanischen Problem der Akrocephalosyndaktylie. Z. menschl. Vererb.-u. Konstit.-Lehre 29, 791 (1950)

    Google Scholar 

  11. Eaton, A., Sommer, A., Sayers, M. P.: The Kleeblattschädel anomaly. Birth Defects Original Article Series (in press, 1974). Quoted by Cohen [8]

  12. Esbaugh, D.: Relation of the changes in the brain to those in the skull of Crouzon's and similar diseases; with a report of a case. J. Neuropath. exp. Neurol. 7, 328 (1948)

    Google Scholar 

  13. Feingold, M., O'Connor, J. F., Berkman, M., Darling, D. B.: Kleeblattschädel syndrome. Amer. J. Dis. Child. 118, 589 (1969)

    Google Scholar 

  14. Feingold, M., Miller, D., Bull, M. J.: The demise of a syndrome? Syndrome Identification I/2, 21 (1973)

    Google Scholar 

  15. Hall, B. D., Smith, D. W., Shiller, J. G.: Kleeblattschädel (clover-leaf) syndrome: severe form of Crouzon's disease? J Pediat. 80, 526 (1972)

    Google Scholar 

  16. Herrmann, J., Opitz, J. M.: Craniosynostosis and craniosynostosis syndromes. Birth Defects Orginal Article Series X/7, 69 (1974)

    Google Scholar 

  17. Herrmann, J., Pallister, P. D., Opitz, J. M.: Craniosynostosis and craniosynostosis syndromes. Rocky Mtn med. J. 66, 45 (1969)

    Google Scholar 

  18. Holtermüller, K., Wiedemann, H. R.: Kleeblattschädelsyndrom. Med. Mschr. 14, 439 (1960)

    Google Scholar 

  19. Lenz, W.: Zur Diagnose und Ätiologie der Akrocephalosyndaktylie. Z. Kinderheilk. 79, 546 (1957)

    Google Scholar 

  20. Lenz, W.: Isolierte Chondrodystrophie des Schädels (Kleeblattschäde). In: Anomalien des Wachstums und der Körperform, Ch. 2, in: P. E. Beckers Hdb. d. Humangenetik, Bd. II, pp. 79–80. Stuttgart: Thieme 1964

    Google Scholar 

  21. Liebaldt, G.: Das “Kleeblatt-Schädel-Syndrom” als Beitrag zur formalen Genese der Entwicklungsstörungen des Schädeldachs. Ergebn. allg. Path. path. Anat. 45, 23 (1964)

    Google Scholar 

  22. Manns, K.-J., Bopp, K. Ph.: Dysostosis craniofacialis Crouzon mit digitaler Anomalie. Med. Klin. 60, 1899 (1965)

    Google Scholar 

  23. Marden, P. M., Smith, D. W., McDonald, M. J.: Congenital anomalies in the newborn infant, including minor variations. J. Pediat. 64, 357 (1964)

    Google Scholar 

  24. Martsolf, J. T., Cracco, J. B., Carpenter, G. G., O'Hara, A. E.: Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Amer. J. Dis. Child. 121, 257 (1971)

    Google Scholar 

  25. McKusick, V. A.: Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes, 3rd Ed. Baltimore: Johns Hopkins Press 1971

    Google Scholar 

  26. 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 (1968)

    Google Scholar 

  27. Nawalkha, P. L., Mangal, H. N.: Kleeblattschädel deformity syndrome. Indian J. Pediat. 37, 478 (1970)

    Google Scholar 

  28. Neumärker, K.-J., Neumärker, M.: Klinischer und neuroradiologischer Beitrag zum Kleeblattschädelsyndrom. Z. Kinderheilk. 113, 151 (1972)

    Google Scholar 

  29. Partington, M. W., Gonzalez-Crussi, F., Khakee, S. G., Wollin, D. G.: Cloverleaf skull and thanatophoric dwarfism. Arch. Dis. Childh. 46, 656 (1971)

    Google Scholar 

  30. Pena, S. D. J.: Kleeblattschädel anomaly — which one? Syndrome Identification II/1, 27 (1974)

    Google Scholar 

  31. Pfeiffer, R. A.: Dominant erbliche Akrocephalosyndaktylie. Z. Kinderheilk. 90, 301 (1964)

    Google Scholar 

  32. Pfeiffer, R. A.: Associated deformities of the head and hands. Birth Defects Original Article Series V/3, 18 (1969)

    Google Scholar 

  33. Rodriguez-Soriano, J., Prats, J.-M., Cotero, A., Martin-Vargas, L.: Une forme inhabituelle d'hydrocéphalie: le syndrome du “crâne en trèfle”. Arch. franç. Pédiat. 30, 206 (1973)

    Google Scholar 

  34. Ryan, J., Kozlowski, K.: Radiography of stillborn infants. Aust. Radiol. 15, 213 (1971)

    Google Scholar 

  35. Sabry, A.: Thanatophoric dwarfism in triplets. Lancet 1974 II, 533

  36. Schuch, A., Pesch, H. J.: Beitrag zum Kleeblattschädel-Syndrom. Z. Kinderheilk. 109, 187 (1971)

    Google Scholar 

  37. Shiller, J. G.: Craniofacial dysostosis of Crouzon. A case report and pedigree with emphasis on heredity. Pediatrics 23, 107 (1959)

    Google Scholar 

  38. Temtamy, S.: Genetic factors in hand malformations. Ph. D. Thesis, Johns Hopkins University. Pub. by University Microfilms Ltd., High Wycomb England, Xerox Co., Ann Arbor, Michigan (1966)

    Google Scholar 

  39. Temtamy, S., McKusick, V. A.: Synopsis and hand malformations with particular emphasis on genetic factors. Birth Defects Original Article Series V/3, 125 (1969)

    Google Scholar 

  40. Torpin, R.: Fetal malformations caused by amnion rupture during gestation. Springfield (Ill.): C. C. Thomas 1968

    Google Scholar 

  41. Watters, E. C., Hiles, D. A., Johnson, B. L.: Cloverleaf skull syndrome. Amer. J. Ophthal. 76, 716 (1973)

    Google Scholar 

  42. Wiedemann, H.-R., Ostertag, B.: Kleeblattschädel und allgemene Mikromelie. Klin. Pediat. 186, 216 (1974)

    Google Scholar 

  43. Wollin, D. G., Binnington, V. I., Partington, M. W.: Cloverleaf skull. J. Canad. Ass. Radiol. 19, 148 (1968)

    Google Scholar 

  44. Young, R. S., Pochaczevsky, R., Leonidas, J. C., Wexler, I. B., Ratner, H.: Thanatophoric dwarfism and cloverleaf skull (“Kleeblattschädel”). Radiology 106, 401 (1973)

    Google Scholar 

  45. Zippel, H., Schüler, K.-H.: Dominant vererbte Akrozephalosyndaktylie (ACS). Fortschr. Röntgenstr. 110, 234 (1969)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Pathology, Pediatrics, Medical Genetics and Radiology, University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, WI

    R. J. Hodach, C. Viseskul, E. F. Gilbert, J. P. R. Herrmann, J. J. Wolfson & J. M. Opitz

  2. Department of Central Wisconsin Colony and Training School, Madison, WI

    E. G. Kaveggia

Authors
  1. R. J. Hodach
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Viseskul
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. E. F. Gilbert
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. P. R. Herrmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. J. Wolfson
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. E. G. Kaveggia
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. J. M. Opitz
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Paper No. 1743 from the University of Wisconsin Genetics Laboratory. Supported by USPHS Grants GM 15422, 5KO4 HD 18982, and GM20130.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hodach, R.J., Viseskul, C., Gilbert, E.F. et al. Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Z. Kinder-Heilk. 119, 87–103 (1975). https://doi.org/10.1007/BF00443563

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00443563

Key words

Search

Navigation