Platelet Disorder, Undefined

Dowton et al. (1985) found that at least 22 members of a large kindred had a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic features included mild to moderate thrombocytopenia, prolonged bleeding time, and abnormal platelet aggregation. Platelet survival time was normal. The disorder seemed to be separate from any known thrombocytopenic or thrombocytopathic syndrome. Hematologic neoplasms had developed in 6 family members; 2 had neuroblastoma (256700). The authors listed a considerable number of reported families with an autosomal dominant platelet disorder of ill-defined or undefined nature.