Publications by authors named "Daniela A Febres-Cordero"
Article Synopsis
- Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition leading to severe intellectual disabilities and other physical symptoms, diagnosed through clinical signs and the presence of a SMARCA2 mutation.
- The case presented involves a prenatal diagnosis of caudal regression and congenital vertical talus, ultimately linked to a de novo SMARCA2 variant after the pregnancy was terminated.
- This study suggests that these specific physical traits should be recognized as part of the spectrum associated with NCBRS when linked to the SMARCA2 pathogenic variant.
Preeclampsia 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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