Acta Neuropathologica

, Volume 74, Issue 4, pp 397–401

Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation

  • A. Hori
  • K. Tamagawa
  • S. W. Eber
  • M. Westmeier
  • I. Hansmann
Case reports


Marked intrauterine developmental retardation in a fetal case of Seckel syndrome was morphologically defined in the 29th week of gestation by comparing with a large number of length-matched and age-matched controls. Telencephalic micrencephaly with reduced neuroblast production, retarded functional differentiation of the pituitary gland, and generalized hypotrophy with craniofacial stigmata were observed.

Key words

Fetal brain development Immunohistochemistry Intrauterine growth retardation Microcephaly Seckel syndrome 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Arons PH (1964) Vogelkopdwergen. Maandschr Kindergeneeskd 32:386–394Google Scholar
  2. 2.
    Boscherini B, Iannaccone G, La Cauza C, Mancuso G, Girotti F, Finocchi G, Pasquino AM (1981) Intrauterine growth retardation. A report of two cases with bird-headed appearance, skeletal changes and peripheral GH resistance. Eur J Pediatr 137:237–242Google Scholar
  3. 3.
    De La Cruz FF (1963) Bird-headed dwarf: a case report. Am J Ment Defic 68:54–62Google Scholar
  4. 4.
    Harper RG, Orti E, Baker RK (1967) Bird-headed dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. J Pediatr 70:799–780Google Scholar
  5. 5.
    Hori A (1985) Suprasellar peri-infundibular ectopic adenohypophysis in fetal and adult brains. J Neurosurg 63:113–115Google Scholar
  6. 6.
    Lilleyman JS (1984) Constitutional hypoplastic anemia associated with familial “bird-headed” dwarfism (Seckel syndrome). Am J Pediatr Hematol Oncol 6:207–209Google Scholar
  7. 7.
    Majewski F, Goecke T (1982) Studies of microcephalic primordial dwarfism. I. Approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7–21Google Scholar
  8. 8.
    McKusick VA, Mahloudji M, Abbott MH, Lindenberg R, Kepas D (1967) Seckel's bird-headed dwarfism. N Engl J Med 277:279–286Google Scholar
  9. 9.
    Mercier J, Delaire J, Salagnac JM, Cohen JY (1983) Le syndrome de Seckel (ou nanisme à tète d'oiseau). A propos d'une observation. Rev Stomatol Chir Maxillofac 84:264–268Google Scholar
  10. 10.
    Poznanski AK, Iannaccone G, Pasquino AM, Boscherini B (1983) Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). Pediatr Radiol 13:19–24Google Scholar
  11. 11.
    Roessmann U (1974) Weight ratio between the infratentorial and supratentorial portions of the central nervous system. J Neuropathol Exp Neurol 33:164–170Google Scholar
  12. 12.
    Seckel HPG (1960) Bird-headed dwarfs. Studies in developmental anthropology including human proportions. Karger, Basel New York, pp 1–241Google Scholar
  13. 13.
    Sternberger LA (1986) Immunohistochemistry, 3rd edn. Wiley, New York, pp 90–209Google Scholar
  14. 14.
    Toudic L, Maroteaux P, Castel Y, Gouedard H, Parent P (1983) Hétérogénéité du syndrome de Seckel? A propos d'un cas. Ann Pediatr (Paris) 30:700–704Google Scholar
  15. 15.
    Wolf CB, Peterson JA, LoGrippo GA, Weiss L (1967) Ring 1 chromosome and dwarfism: a possble syndrome. J Pediatr 71:719–722Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • A. Hori
    • 1
  • K. Tamagawa
    • 1
  • S. W. Eber
    • 2
  • M. Westmeier
    • 2
  • I. Hansmann
    • 3
  1. 1.Department of NeuropathologyUniversität GöttingenGöttingenGermany
  2. 2.Department of PediatricsUniversität GöttingenGöttingenGermany
  3. 3.Department of Human GeneticsUniversität GöttingenGöttingenGermany

Personalised recommendations