ABSTRACT
Venous thromboembolism is a leading cause for maternal mortality. Because of the increase risk for thromboembolism in pregnancy and the postpartum period, the clinician must be on high alert for the signs and symptoms and use appropriate diagnostics in a timely manner so that prompt anticoagulation therapy can be initiated. A diagnostic and management approach for both deep vein thrombosis and pulmonary embolism and for prophylaxis against thromboembolism in the obstetric patient are crucial to decreasing morbidity, mortality, and long-term sequelae.
Subject(s)
Pregnancy Complications, Cardiovascular , Pulmonary Embolism , Venous Thrombosis , Anticoagulants/administration & dosage , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Pregnancy Complications, Cardiovascular/diagnosis , Pregnancy Complications, Cardiovascular/drug therapy , Pulmonary Embolism/complications , Pulmonary Embolism/diagnosis , Pulmonary Embolism/drug therapy , Risk Factors , Tomography, X-Ray Computed , Ultrasonography, Doppler, Color , Venous Thrombosis/complications , Venous Thrombosis/diagnosis , Venous Thrombosis/drug therapyABSTRACT
Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation.