Medical Genetics Original Paper

European Journal of Pediatrics

, Volume 154, Issue 4, pp 304-308

First online:

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

  • Cora M. AalfsAffiliated withInstitute of Human Genetics, Academic Medical Hospital
  • , Henk van den BergAffiliated withDepartment of Paediatrics, Academic Medical Centre
  • , Peter G. BarthAffiliated withDepartment of Paediatrics, Academic Medical Centre
  • , Raoul C. M. HennekamAffiliated withDepartment of Paediatrics, Academic Medical CentreInstitute of Human Genetics, Academic Medical Hospital

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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 delay Growth retardation Panoytopenia Cerebellar hypoplasia Autosomal recessive inheritance