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Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists.
Pediatr Neurol
December 2024
Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia.
View Article and Find Full Text PDFPhenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
Am J Med Genet A
January 2025
Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.
View Article and Find Full Text PDFSonographic visualization and measurement of the fetal optic chiasm and optic tract and association with the cavum septum pellucidum.
J Perinat Med
December 2024
Department of Perinatology, City Hospital of Izmir, Izmir, Türkiye.
Article Synopsis
- The study aimed to evaluate the visibility of the fetal optic chiasm and optic tracts through ultrasound and establish reference values for mid-trimester fetuses.
- It included 154 normal fetuses at 19-23 weeks of gestation, measuring various dimensions using a specific ultrasound technique, successfully visualizing OC and OTs in 70.8% of cases.
- Results showed that the dimensions of OC and OTs were positively correlated with measurements of the cavum septum pellucidum, as well as other growth indicators like biparietal diameter and head circumference.
Erratum: Cavum Septum Pellucidum in Former American Football Players: Findings From the DIAGNOSE CTE Research Project.
Neurol Clin Pract
February 2025
[This corrects the article DOI: 10.1212/CPJ.0000000000200324.
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