A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

H Stormorken, O Sjaastad, A Langslet, I Sulg… - Clinical …, 1985 - Wiley Online Library
H Stormorken, O Sjaastad, A Langslet, I Sulg, K Egge, J Diderichsen
Clinical genetics, 1985Wiley Online Library
A new multifacetted syndrome inherited as an autosomal, dominant trait is described
encompassing not only two hitherto undescribed hereditary defects‐thrombocytopathia and
asplenia‐but also muscle contractile defect, migraine‐like headache, miosis, dyslexia and
ichthyosis. None of these defects has so far been assigned to a specific chromosome or
linkage group. Further studies on the various aspects of the syndrome are in progress.
A new multifacetted syndrome inherited as an autosomal, dominant trait is described encompassing not only two hitherto undescribed hereditary defects ‐ thrombocytopathia and asplenia ‐ but also muscle contractile defect, migraine‐like headache, miosis, dyslexia and ichthyosis. None of these defects has so far been assigned to a specific chromosome or linkage group. Further studies on the various aspects of the syndrome are in progress.
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