Thrombocytosis in an infant with a mutation: a case report.

Mutations in the calcium channel gene () cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed enhanced proplatelet formation and increased murine platelet count in the context of activation. No prior reports have described platelet count abnormalities in human disease. Here, we report a case of prolonged thrombocytosis in the context of -associated metatropic dysplasia that was lethal in the infantile period.