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PMID: 4085141 Published · ppublish English Case Reports Journal Article

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

Clinical genetics ·Vol. 28 ·No. 5 ·1985-11-00 ·Pages 367-74

Stormorken H, Sjaastad O, Langslet A, Sulg I, Egge K, Diderichsen J

Abstract

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.

MeSH Terms
Child Dyslexia/genetics Eye Diseases/genetics Female Genetic Diseases, Inborn/genetics Humans Ichthyosis/genetics Male Migraine Disorders/genetics Muscular Diseases/genetics Pedigree Pupil Spleen/abnormalities Syndrome Thrombocytopenia/genetics
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Stormorken H
Sjaastad O
Langslet A
Sulg I
Egge K
Diderichsen J
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1985-11-00
Pages
367-74
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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