Congenital abnormalities of the posterior fossa

T Bosemani, G Orman, E Boltshauser, A Tekes… - Radiographics, 2015 - pubs.rsna.org
The frequency and importance of the evaluation of the posterior fossa have increased
significantly over the past 20 years owing to advances in neuroimaging. Nowadays …

Development and developmental disorders of the human cerebellum

HJ ten Donkelaar, WFA den Dunnen… - … disorders of the human …, 2023 - Springer
The cerebellum is one of the best studied parts of the brain. The cerebellar cortex is
composed of four main types of neurons: granule cells, Purkinje cells, and two types of …

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of …

GE Ishak, JC Dempsey, DWW Shaw, H Tully, MP Adam… - Brain, 2012 - academic.oup.com
Rhombencephalosynapsis is a midline brain malformation characterized by missing
cerebellar vermis with apparent fusion of the cerebellar hemispheres …

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

A Poretti, E Boltshauser… - American Journal of …, 2014 - Wiley Online Library
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common,
but non‐specific neuroimaging finding. The etiological spectrum of CH is wide and includes …

Diffusion tensor imaging and fiber tractography in brain malformations

A Poretti, A Meoded, A Rossi, C Raybaud… - Pediatric …, 2013 - Springer
Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and
quantitative information about the micro-architecture of white matter. DTI and its post …

Rhombencephalosynapsis: fused cerebellum, confused geneticists

KA Aldinger, JC Dempsey, HM Tully… - American Journal of …, 2018 - Wiley Online Library
Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by
fusion of the cerebellar hemispheres with partial or complete absence of a recognizable …

Update on neuroimaging phenotypes of mid-hindbrain malformations

P Jissendi-Tchofo, M Severino, B Nguema-Edzang… - Neuroradiology, 2015 - Springer
Purpose Neuroimaging techniques including structural magnetic resonance imaging (MRI)
and functional positron emission tomography (PET) are useful in categorizing various …

Posterior fossa malformations

M Severino, TAGM Huisman - Neuroimaging Clinics, 2019 - neuroimaging.theclinics.com
Posterior fossa malformations include a wide spectrum of heterogeneous conditions caused
by disruption of molecular pathways involved in cerebellar and brainstem formation …

Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria

ET Rush, MP Adam, RD Clark, C Curry… - American Journal of …, 2013 - Wiley Online Library
Abstract Gomez–Lopez‐Hernandez syndrome (GLHS) is a rare neurocutaneous disorder.
We are aware of thirty previously reported cases. We present four additional patients with …

Beyond Gomez‐Lopez‐Hernandez syndrome: Recurring phenotypic themes in rhombencephalosynapsis

HM Tully, JC Dempsey, GE Ishak… - American Journal of …, 2012 - Wiley Online Library
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by
fusion of the hemispheres without an intervening vermis. Frequently described in …