نتایج جستجو برای: brain malformation

تعداد نتایج: 486518  

Journal: :American journal of human genetics 2013
Farid Radmanesh Ahmet Okay Caglayan Jennifer L Silhavy Cahide Yilmaz Vincent Cantagrel Tarek Omar Başak Rosti Hande Kaymakcalan Stacey Gabriel Mingfeng Li Nenad Sestan Kaya Bilguvar William B Dobyns Maha S Zaki Murat Gunel Joseph G Gleeson

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,...

Journal: :European Journal of Medical Genetics 2021

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...

Journal: :iranian journal of pediatric surgery 0
leili mohajerzadeh pediatric surgery research center, shahid beheshti university of medical sciences, tehran, iran. diana diaz pediatric surgery research center, shahid beheshti university of medical sciences, tehran, iran. parand ghaffari pediatric surgery research center, shahid beheshti university of medical sciences, tehran, iran.

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...

Journal: :Interventional Neuroradiology 2003

2015
Shuang Liu Hong-xu Chen Qing Mao Chao You Jian-guo Xu Katharina Vezyroglou

Title:Factors associated with seizure occurrence and long-term seizure control in Pediatric brain arteriovenous malformation: a retrospective analysis of 89 patients Authors:

2016
Iskender KARA Fatma YILDIRIM Hamit KÜÇÜK İsmail KATI

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...

2011
Himanshu Aneja

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 ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید