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| http://dx.doi.org/10.1136/bcr.04.2011.4102 | DOI Listing |
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Morphometric Development of Medial Surface of Cerebrum in Fetal Cadavers.
Turk Neurosurg
November 2024
Lokman Hekim University Faculty of Medicine, Department of Anatomy, Ankara, Türkiye.
Aim: To investigate the morphometric and morphological development of the medial surface of the cerebrum in 40 fetal cadavers without external anomalies and pathologies between the gestational ages of 22 and 40 weeks.
Material And Methods: In this study, we measured the height and width of the cerebral hemisphere, cingulate sulcus, marginal sulcus, sulcus of the corpus callosum, calcarine sulcus, parieto-occipital sulcus, and central sulcus in each hemisphere. We examined these measures between genders and sides and assessed how these parameters developed over the course of gestational age (measured in months).
Molecular Study of the Fukutin-Related Protein () Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
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September 2024
Institute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Article Synopsis
- Pathogenic variants in the FKRP gene cause various muscular dystrophies, including Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), which is notably prevalent in Italy.
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Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus.
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Department of Medicine, Batterjee Medical College, Jeddah, Saudi Arabia.
Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance characterized by brain and eye deformities, profound mental retardation, congenital muscular dystrophy, and early death. This case study demonstrates a mutation on chromosome 12q14 in the TMEM5 gene (RXYLT1; 605862), which encodes a transmembrane protein with glycosyltransferase function. We present a case of a full-term male baby delivered by Cesarean section due to macrocephaly.
View Article and Find Full Text PDFA Novel Pathogenic Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.
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Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.
Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic.
View Article and Find Full Text PDFFeasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy.
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