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Background: Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels. Methods: We describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype. Results: Two novel missense mutations in GJA1 that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5: c.77T>C p.Leu26Pro and NM_000165.5:c.287T>G p.Val96Gly) were detected through targeted sequencing of GJA1. These variants were detected in the heterozygous state in the two Maltese probands and segregated with the disease phenotype. Conclusion: This report further expands the mutational spectrum of ODDD., peer-reviewed

Thalidomide is an effective chemotherapeutic agent used to achieve remission in multiple myeloma. However, its administration is associated with several adverse effects including venous thromboembolism, while arterial thrombosis has also, although rarely, been described in the literature. We report a case of internal carotid artery occlusion within 1 week of starting thalidomide with prophylactic low molecular weight heparin in a patient who had no other prothrombotic risk factors. It is not known why this complication occurs despite the administration of anticoagulant prophylaxis. The role of factor VIII, von Willebrand factor antigen levels and fibrinogen in multiple myeloma patients should be studied in order to determine if these factors should be targeted in future prophylactic treatment. LEARNING POINTS Thalidomide increases risk of arterial thrombosis in multiple myeloma (MM), even if no other procoagulant risk factors are present. All patients starting thalidomide must be assessed before commencing venous thromboprophylaxis, although its efficacy in preventing arterial thrombosis has not yet been proven. Further research is required to target anti-thrombotic factors in order to prevent arterial thrombosis in patients with MM being treated with thalidomide and its derivatives.