European Journal of Pediatrics

, Volume 154, Issue 4, pp 304–308 | Cite as

The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

  • Cora M. Aalfs
  • Henk van den Berg
  • Peter G. Barth
  • Raoul C. M. Hennekam
Medical Genetics Original Paper


We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. Despite extensive laboratory investigations, no specific cause for the abnormalities could be revealed. Strikingly similar features have been described in two brothers by Hoyeraal et al. [5] in 1970 and in one boy by Hreidarsson et al. [6] in 1988. The features seem to be part of a separate entity, for which the eponym “Hoyeraal-Hreidarsson syndrome” may be used. An autosomal or X-linked recessive mode of inheritance seems likely.

Key words

Developmental delay Growth retardation Panoytopenia Cerebellar hypoplasia Autosomal recessive inheritance 


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Cora M. Aalfs
    • 2
  • Henk van den Berg
    • 1
  • Peter G. Barth
    • 1
  • Raoul C. M. Hennekam
    • 1
    • 2
  1. 1.Department of PaediatricsAcademic Medical CentreAmsterdamThe Netherlands
  2. 2.Institute of Human GeneticsAcademic Medical HospitalAmsterdamThe Netherlands

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