European Journal of Pediatrics

, Volume 154, Issue 4, pp 304–308

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

DOI: 10.1007/BF01957367

Cite this article as:
Aalfs, C.M., van den Berg, H., Barth, P.G. et al. Eur J Pediatr (1995) 154: 304. doi:10.1007/BF01957367

Abstract

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 delayGrowth retardationPanoytopeniaCerebellar hypoplasiaAutosomal recessive inheritance

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