Results 31 to 40 of about 833 (169)

Platybasia and Basilar Invagination [PDF]

European Neurology, 2007
Descriptions of the flattening (platybasia) of the skull base and the upward displacement(impression) of the basilar and condylar portions of the occipitalbone by the upper cervical spine date to the late 18th and early 19th centuries. Anatomical measurements to display these abnormalities were begun in 1865, but the full clinical significance was not ...
openaire   +2 more sources

The Filum disease and the Neuro-Cranio-vertebral syndrome: definition, clinical picture and imaging features

BMC Neurology, 2020
Background We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM ...
Miguel B. Royo-Salvador, Marco V. Fiallos-Rivera, Horia C. Salca, Gabriel Ollé-Fortuny   +3 more
doaj   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 504-516, March 2026.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Frontiers in Genetics, 2018
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy.
Domenico Roberti, Renata Conforti, Teresa Giugliano, Barbara Brogna, Immacolata Tartaglione, Maddalena Casale, Giulio Piluso, Silverio Perrotta   +7 more
doaj   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, Volume 308, Issue 12, Page 3157-3174, December 2025.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

Contribuição ao estudo das malformações occipito-cervical, particularmente da impressão basilar

Arquivos de Neuro-Psiquiatria, 1952
The authors outline the development of the spine and skull, particularly of axis, atlas and occipital bone. As neuro-skeletal dysmorphisms, the occipito-cervical malformations belong to the neurodysplastic group. They are classified as skeletal anomalies,
Horacio M. Canelas, José Zaclis, Rolando A. Tenuto   +2 more
doaj   +1 more source

Sagittal Cephalometric Characteristics in Females With Turner Syndrome in Comparison to Nonsyndromic Females: A Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 28, Issue 4, Page 593-604, August 2025.
ABSTRACT The present study aimed to assess the sagittal cephalometric characteristics in females with Turner syndrome (TS) as compared with nonsyndromic females. A literature search was carried out using six electronic databases to identify studies that compared the sagittal lateral cephalometric measurements in females with TS, with the last search ...
Kara Bierley, Gregory S. Antonarakis
wiley   +1 more source

Position-dependent arm dyskinesia due to severe craniocervical malformation

, 2021
Spinal-generated movement disorders are a complex group of medical conditions, frequently misdiagnosed, originating in the spinal cord or from combined peripheral and central nervous system involvement.
David Nunes de Lima Junior (14108833), José Arnaldo Mota Arruda (10292359), Florian P. Thomas (10292365), Francisco de Assis Aquino Gondim (10292356)   +3 more
core   +1 more source

Analysis of Failed Posterior Fossa Decompression and an Effective Revision Surgery in Patients with Basilar Invagination and Atlantoaxial Dislocation

Orthopaedic Surgery, Volume 16, Issue 12, Page 3088-3097, December 2024.
Posterior revision surgery in patients with BI‐AAD after posterior fossa decompression (PFD). (A) It aggravated instability and ventral compression when patients with BI‐AAD underwent PFD. (B) Posterior revision surgery using interarticular distraction technique and cage grafting will achieve effective reduction and symptom relief.
Maoyang Qi, Yueqi Du, Boyan Zhang, Zong Xin, Can Zhang, Zhenlei Liu, Jian Guan, Zuowei Wang, Fengzeng Jian, Wanru Duan, Zan Chen   +10 more
wiley   +1 more source