, 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

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access


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.