Results 31 to 40 of about 2,546 (143)

Trapped Fourth Ventricle in a Pediatric Patient With a History of Post‐Traumatic Hydrocephalus and Ventriculoperitoneal Shunt: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Trapped fourth ventricle (TFV) is a rare, serious complication of ventriculoperitoneal (VP) shunting that can mimic posterior fossa tumors and cause life‐threatening brainstem compression. We report the case of a 7‐year‐old boy with a history of a VP shunt for post‐traumatic hydrocephalus who presented with progressive drowsiness and gait ...
Muhammad Hamza, Muhammad Ibrahim, Ihsan Ullah, Rehmat Farhaj, Fazeela Bibi, Khalil El Abdi, Bilal Aslam, Vohra Maham Hassan, Said Hamid Sadat   +8 more
wiley   +1 more source

A Case of Noncommunicating Hydrocephalus Presenting as Isolated Hyposmia

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Noncommunicating hydrocephalus causing hyposmia. ABSTRACT Olfactory dysfunction presents in combination with various different symptoms and can be attributed to a range of etiologies, including sinonasal disease, post‐viral infection, post‐traumatic injury, age‐related decline, and less commonly intracranial structural abnormalities and genetic ...
Bartels Walker, Siddharth A. Patel, Caitlin Jackson, Graham M. Strub   +3 more
wiley   +1 more source

Sleep apnea in patients with achondroplasia associated with foramen magnum stenosis

Journal of Neurosurgery: Pediatrics
OBJECTIVE Sleep apnea is frequently associated with foramen magnum stenosis in patients with achondroplasia and considered a cause of sudden death. The aim of this study was to evaluate the results of respiratory polygraphy (RPG) before and after surgery in patients who underwent foramen magnum decompression ...
Nobutoshi, Kumagai, Hideki, Ogiwara, Toru, Iwama, Tsuyoshi, Izumo   +3 more
openaire   +3 more sources

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons

Advanced Genetics, Volume 7, Issue 2, June 2026.
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Hypochondroplasia with Foramen Magnum Stenosis: a Case Report

Balkan Medical Journal, 2011
Hypochondroplasia was first reported in the English literature by Beals (1969). The features are similar to those of achondroplasia but are less severe and are usually reported not to involve the skull.
Nazik Aşılıoğlu, Alper Ateş, Ayşe Ayzıt Kılınç, Adnan Dağçınar   +3 more
doaj  

Evolution of Posterior Fossa Anatomy Following Prenatal Myelomeningocele Repair

Clinical Neuroimaging, Volume 3, Issue 1, 2026.
ABSTRACT Background and Purpose Chiari II deformation in open neural tube defect (ONTD) includes hindbrain herniation (HBH) and posterior fossa remodeling. While HBH reversal after prenatal ONTD repair is well described, associated changes in cerebellar morphology, torcular position, and bony configuration remain poorly characterized.
Romain Corroenne, Magdalena Sanz Cortes, William E. Whitehead, Livja Mertiri, Michael A. Belfort, Thierry A. G. M. Huisman   +5 more
wiley   +1 more source

Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia

Journal of Imaging
This retrospective study assessed anatomical characteristics of cervicomedullary compression in children with achondroplasia. Twelve anatomical parameters were analyzed (foramen magnum diameter and area; myelon area; clivus length; tentorium and ...
Isabella Trautwein, Daniel Behme, Philip Kunkel, Jasper Gerdes, Klaus Mohnike   +4 more
doaj   +1 more source

Imaging Characteristics of Persistent Carotid‐Vertebrobasilar Anastomoses Detected by Ultrasound

Journal of Ultrasound in Medicine, Volume 44, Issue 11, Page 2157-2169, November 2025.
In this case series, we aimed to evaluate the ultrasonic characteristics of 35 patients with persistent carotid‐vertebrobasilar anastomoses (PCVBA), a rare variant between the anterior and posterior cerebral circulation. Ultrasound detected seven (30.4%, 7/23) primitive trigeminal arteries (PTA), eight (100%, 8/8) primitive hypoglossal arteries (PHA ...
Xiang Li, Qiuping Li, Liyong Du, Yumeng Luo, Jie Yang, Tieying Zhang, Jiabin Liu   +6 more
wiley   +1 more source

Promising horizons in achondroplasia along with the development of new drugs

Endocrine Journal
Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging to the fibroblast growth factor receptor 3 (FGFR3) group. The downstream signal transduction of FGFR3
Keiichi Ozono, Takuo Kubota, Toshimi Michigami   +2 more
doaj   +1 more source