Two novel GJA1 variants in oculodentodigital dysplasia.

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.

A Case of Internal Carotid Artery Thrombosis associated with Thalidomide Administration in Multiple Myeloma.

Unlabelled: 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.