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dc.contributor.authorHreidarsson, S
dc.contributor.authorKristjansson, K
dc.contributor.authorJohannesson, G
dc.contributor.authorJohannsson, J H
dc.date.accessioned2010-03-03T14:24:44Z
dc.date.available2010-03-03T14:24:44Z
dc.date.issued1988-09-01
dc.date.submitted2010-03-03
dc.identifier.citationActa Paediatr Scand. 1988, 77(5):773-5en
dc.identifier.issn0001-656X
dc.identifier.pmid3201986
dc.identifier.doi10.1111/j.1651-2227.1988.tb10751.x
dc.identifier.urihttp://hdl.handle.net/2336/93573
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractA male infant with congenital thrombocytopenia, progressing to pancytopenia in the second year of life is presented. Other findings included microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and severe psychomotor retardation. He died at 23 months of age from candida albicans septicemia. Laboratory studies and a postmortem examination failed to reveal any known etiology for his disorder, but parental consanguinity suggests a genetic basis with an autosomal recessive mode of inheritance. Høyeraal et al. have previously reported two brothers with similar clinical and laboratory findings. It is proposed that the condition of these three patients should be considered as a separate syndrome of congenital pancytopenia, distinguished from other congenital myeloid dysplasias by the extramedullary findings.
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttp://dx.doi.org/10.1111/j.1651-2227.1988.tb10751.xen
dc.subject.meshCerebellumen
dc.subject.meshGrowth Disordersen
dc.subject.meshHumansen
dc.subject.meshInfanten
dc.subject.meshMaleen
dc.subject.meshMicrocephalyen
dc.subject.meshPancytopeniaen
dc.subject.meshPsychomotor Disordersen
dc.subject.meshSyndromeen
dc.titleA syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failureen
dc.typeArticleen
dc.contributor.departmentDepartment of Paediatrics, National Hospital, Reykjavik, Iceland.en
dc.identifier.journalActa paediatrica Scandinavicaen
html.description.abstractA male infant with congenital thrombocytopenia, progressing to pancytopenia in the second year of life is presented. Other findings included microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and severe psychomotor retardation. He died at 23 months of age from candida albicans septicemia. Laboratory studies and a postmortem examination failed to reveal any known etiology for his disorder, but parental consanguinity suggests a genetic basis with an autosomal recessive mode of inheritance. Høyeraal et al. have previously reported two brothers with similar clinical and laboratory findings. It is proposed that the condition of these three patients should be considered as a separate syndrome of congenital pancytopenia, distinguished from other congenital myeloid dysplasias by the extramedullary findings.


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