EP02.16: Case of hypoplasia cerebellar vermis with dynamic ventriculomegaly change
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منابع مشابه
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings.
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive con...
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Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced Fgf8 expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for Chd7, the gene mutated in CHARGE (Coloboma, Heart defects, choanal A...
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Ad dress for Cor res pon den ce Fatih Gürbüz MD, Ankara Pediatric Hematology and Oncology Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey E-mail: [email protected] ©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Dear Editor, Crouzonodermoskeletal syndrome) [Online Mendelian Inheritance in Man (OMIM)...
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Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding of the disruptions in the developmental programme that underpin brain defects associated with this syndrome. Using mouse models, we show that Chd7 haploinsufficiency results in reduced Fgf8 expression in the isthmus organiser (IsO), an e...
متن کاملCerebellar hypoplasia in a case with neurofibromatosis type 1.
To cite: Işıkay S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013202160 DESCRIPTION A 6-year-old boy was followed by our clinic due to epilepsy and neurofibromatosis type 1 (NF-1). The patient experienced generalised tonic–clonic seizures for the previous 3 years, which were controlled by 1.5 years of valproic aci and clonazepam treatments. Physical examinat...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2017
ISSN: 0960-7692
DOI: 10.1002/uog.18338