نتایج جستجو برای: brain malformation
تعداد نتایج: 486518 فیلتر نتایج به سال:
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1,...
This article reviews the development of research in field craniosynostosis from a bibliometric standpoint. Craniosynostosis is malformation occurring during early skull, when one or more sutures close too early, causing problems with normal brain and skull growth. Research this has developed clinical case descriptions, to genetic discoveries responsible for malformations onwards developing soph...
abstract we had two cases of female complicated anorectal and genital malformations which underwent total mobilization of all structures of perinea to midline. case1: a 6 month old female with skin covered bladder, pubic diastasis, ectopic anus, vagina, and urethra to the right side of median cleft and lipoma on the left side. closure of pubic diastasis with iliac osteotomy and double barrel si...
Title:Factors associated with seizure occurrence and long-term seizure control in Pediatric brain arteriovenous malformation: a retrospective analysis of 89 patients Authors:
The Chiari I malformation is a congenital anomaly of unknown origin consisting of caudal displacement of the cerebellar tonsils protruding through the foramen magnum, whereas the brainstem and fourth ventricle remain in the cranial vault. We present a case of a sudden brain death of a 20-year-old adult man with trauma who subsequently was found to have a previously undiagnosed Chiari I malforma...
A five month girl with extreme microcephaly and complex brain malformation is reported. Magnetic resonance imaging (MRI) revealed bilateral thickened smooth cortex with diffuse agyria-pachygyria spectrum, agenesis of corpus callosum, bilateral hypoplastic cerebellar hemispheres and ventriculomegaly with Dandy-Walker malformation. By adding our case in the list of similar case reports by László ...
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