Craniosynostosis: is a prenatal diagnosis possible?

We report the case of a 62-year-old man with massive pulmonary embolism and severe hemodynamic impairment. Transthoracic Doppler echocardiography was fundamental in confirming the diagnosis by direct visualization of intra-atrial thrombus and signs of right chamber overload. It allowed prompt administration of thrombolytic drug and follow-up monitoring. Doppler echocardiography is a non-invasive, available technique and its early application should be considered in the evaluation of patients with suspected massive pulmonary embolism.     

Craniosynostosis with Marfan syndrome, hand and foot anomalies

We report a patient with various connective tissue abnormalities suggesting a distinctive connective tissue disorder combining some features of the Marfan syndrome with craniosynostosis and hand and feet anomalies.