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Høyeraal-Hreidarsson syndrome
Description:
A severe variant of the Zinsser-Engman-Cole syndrome (dyskeratosis congenita). It is a progressive, multisystemic disorder mainly affecting males (91 %) reported so far in 12 pedigrees. It is characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia. Affected children show growth retardation and microcephaly in the first months of life. The first symptoms of pancytopenia do not occur before the age of 5 months and continue to increase for years. The cerebellum is proportionately small in Hoyeraal-Hreidarsson syndrome. Dyskeratosis congenita is characterised by cutaneous pigmentation, nail distrophy, and oral leukoplakia, and is complicated by malignancy and bone marow failure. More than 80 percent of cases are X-linked recessive. Most patients die before 20 years.
Stefán J. Hreiðarsson, Icelandic paediatrician.
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