Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical findings and the identification of a heterozygous SMARCA2 pathogenic variant by molecular genetic testing. There are not, however, consensus clinical diagnostic criteria for this condition as there are so few documented cases.
View Article and Find Full Text PDFPreeclampsia is a hypertensive disorder of pregnancy that is a leading cause of maternal and perinatal morbidity and mortality. The condition presents heterogeneously at varying gestational ages. Primary prevention for preeclampsia with low-dose aspirin is recommended for patients with clinical risk factors.
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