title: A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis.
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: D002648:Child; D004410:Dyslexia / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D008297:Male; D008881:Migraine Disorders / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics; D010375:Pedigree; D011680:Pupil; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics