Publications by authors named "Marianne Yvert"
Objectives: To define the prognostic markers of fetal dilated bowel loops.
Methods: National non-interventional study of 133 consecutive prenatal observations of dilated loops including ultrasound examinations, complementary laboratory tests, magnetic resonance imaging (MRI), outcomes, and postnatal diagnosis.
Results: One hundred twenty seven cases were classified according to outcome: Group 1, very severe (n = 43), Group 2, children needing specific care (n = 39), and Group 3, healthy children (n = 45).
Article Synopsis
- Pontocerebellar hypoplasias (PCHs) are genetic disorders that cause underdevelopment of the cerebellum and brainstem, leading to severe motor and cognitive issues in affected infants.
- Four families with children exhibiting significant brainstem dysfunction were studied, uncovering different mutations in the PRDM13 gene linked to these developmental challenges and marked brain abnormalities observed through MRI and pathology.
- PRDM13, previously unassociated with hindbrain development, is crucial for the specification of certain neurons, and its disruption in animal models shows a direct link to the reduction of essential brain structures, indicating mutations in this gene could be responsible for many cases of PCH.