THE HOYERAAL-HREIDARSSON SYNDROME - THE 4TH CASE OF A SEPARATE ENTITYWITH PRENATAL GROWTH-RETARDATION, PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA

We report on a boy with prenatal growth retardation, progressive pancy topenia, cerebellar hypoplasia, microcephaly and developmental delay. Despite extensive laboratory investigations, no specific cause for the abnormalities could be revealed. Strikingly similar features have bee n 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 syndro me'' may be used. An autosomal or X-linked recessive mode of inheritan ce seems likely.