A5092866713- Biochemical and Molecular Research
- Fibroblast Growth Factor Research
- Cleft Lip and Palate Research
- Medical Imaging and Pathology Studies
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Gestational Trophoblastic Disease Studies
- Congenital Diaphragmatic Hernia Studies
- Connective tissue disorders research
- Genomics and Rare Diseases
- RNA modifications and cancer
Charité - Universitätsmedizin Berlin
2023-2025
Abstract Objectives Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described. Case presentation In present case, a routine second trimester scan revealed cerebral abnormalities (corpus callosum agenesis, cerebellar cleft due vermian hypoplasia, ventriculomegaly), suspected cortical developmental disorder, hypertelorism, hypoplastic nasal bone, small median lip palate, abnormal profile, as well syndactyly...
Abstract Germline pathogenic variants in isocitrate dehydrogenase 1 (IDH1) can lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. To the best of our knowledge, no prenatal case an IDH1 variant has been reported literature. Somatic sequence IDH1/2 genes are described distinct cancers, premalignant diseases inherited metabolic disorders. Amniocentesis further genetic testing trio...
Isocitrate dehydrogenase (IDH) 1 loss may lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. So far, no prenatal case of IDH1 has been reported in literature. Point mutations IDH1/2 genes are described distinct cancers, premalignant diseases inherited metabolic disorders. A 27-year-old Gravida I Para 0 presented at 21+1 gestational weeks for second trimester anomaly screening. The...
muscle function in both skeletal and heart muscle, lactic acidosis progressive brain damage.Reports of biallelic pathogenic variants COQ9 are extremely rare this mitochondrial condition would explain the cardiomegaly contractures seen on scan.The fit with a myopathy extends known phenotype.The couple could have invasive prenatal testing for future pregnancies.In individuals affected by Rubinstein-Taybi, reduced amounts CREB binding protein results short stature, intellectual disability,...