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European Journal of Pediatrics

, Volume 123, Issue 1, pp 15–28 | Cite as

Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “Craniofacial dyssynostosis”

  • Gerhard Neuhäuser
  • Elisabeth G. Kaveggia
  • John M. Opitz
Original Investigations

Abstract

We report clinical findings in 2 sisters and 5 sporadic cases with a “new” type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the oorpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendants. The condition has been designated craniofacial dyssynostosis.

Key words

Craniosynostosis Craniofacial dysostosis Mental retardation Agenesis of corpus callosum Hydrocephalus Cranlofacial dyssynostosis Autosomal recessive inheritance Spanish populations 

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References

  1. Anderson, F. M., Geiger, L.: Craniosynostosis: A survey of 204 cases. J. Neurosurg. 22, 229–240 (1965)Google Scholar
  2. Burkhardt, L.: Pathologische Anatomie des Schädel. In: Handbuch der speziellen Pathologischen Anatomie und Histologie, Vol. IX/7. Berlin-Heidelberg-New York: Springer 1974Google Scholar
  3. Ingraham, F. D., Alexander, E., Matson, D. D.: Clinical studies in craniosynostosis: Analysis of 50 cases and description of a method of surgical treatment. Surgery 24, 518–541 (1948)Google Scholar
  4. Shillito, J., Matson, D. D.: Craniosynostosis: A review of 519 surgical patients. Pediatrics 41, 829–853 (1968)Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Gerhard Neuhäuser
    • 1
    • 2
    • 3
  • Elisabeth G. Kaveggia
    • 2
    • 4
  • John M. Opitz
    • 2
    • 3
  1. 1.The Harry A. Waisman Center on Mental Retardation and Human Development of the University of WisconsinMadisonUSA
  2. 2.Department of Pediatrics of the University of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA
  3. 3.Wisconsin Clinical Genetics Center of the Department of Medical Genetics of the University of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA
  4. 4.Central Wisconsin Colony and Training SchoolMadisorn

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