نتایج جستجو برای: holoprosencephaly

تعداد نتایج: 755  

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2010
Elaine E Stashinko Leslie A Harley Roxanne A Steele Nancy J Clegg

This article describes the experiences and perceived needs of a small cohort of parents of children with holoprosencephaly (HPE). The factors that are important to the lives of children vary across families and stages of development. As children living with HPE grow and change, parents adapt their goals and expectations to reflect their child's now and future state. Relevant literature is integ...

Journal: :AJNR. American journal of neuroradiology 2004
Steven B Pulitzer Erin M Simon Timothy M Crombleholme Jeffrey A Golden

We report a case of the middle interhemispheric variant of holoprosencephaly (MIH) with noncleavage of the posterior portion of the frontal lobes and the parietal regions in a fetus at 22 weeks' gestation. To our knowledge, this is the first case of the rare MIH variant to be diagnosed in utero by use of ultrafast MR imaging and one of the few such reports to document gross and microscopic path...

2016
Pedro Pallangyo Frederick Lyimo Paulina Nicholaus Hilda Makungu Maria Mtolera Isaac Mawenya

BACKGROUND Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogene...

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2018

Journal: :Donald School Journal of Ultrasound in Obstetrics and Gynecology 2017

Journal: :Russkij žurnal detskoj nevrologii 2022

Malformations of the cerebral cortex are often causes epilepsy. The latest changes in their classification summarized. description lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, gray matter heterotopia is given. features epilepsy these diseases described. Magnetic resonance imaging scans for focal cortical dysplasia,...

Journal: :American journal of medical genetics 2000
D Kennedy M M Silver E J Winsor A Toi J Provias M Macha K Precht D H Ledbetter D Chitayat

A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with dupli...

Journal: :Folia neuropathologica 2015
Milena Laure-Kamionowska Krystyna Szymanska Teresa Klepacka

Malformations of the forebrain are characterized by abnormalities in size, shape, and arrangement of the cerebral hemispheres and ventricles. We present the morphological picture of a brain with failure of the forebrain complementary to holoprosencephaly coexisting with absence of the anterodorsal part of the prosencephalic ventricles. The anomaly can be graded within the holoprosencephalic spe...

Journal: :Pediatric Neurology Briefs 2012

Journal: :The Journal of Medical Sciences 2018

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