Results 71 to 80 of about 5,241,481 (177)

Fatal cervical myelopathy in a child with glutaric aciduria type 1

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 217-219, March 2024.
Abstract We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey.
Eline Chauvet, Diana Ribeiro, Ilse Kern, Joel Fluss   +3 more
wiley   +1 more source

Diagnosis and Management of Os Odontoideum [PDF]

, 1997
The authors analyzed 17 cases of os odontoideum. a very rare condition and one of the causes of atlantoaxial instability. We investigated the radiographic findings of os odontoideum and classified the patients according to clinical grade, radiographic ...
윤도흠
core  

Whole‐Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion

Human Mutation, Volume 2024, Issue 1, 2024.
Sandwich fusion of Klippel‐Feil syndrome (KFS), which is a rare congenital disorder involving the fusion of cervical vertebrae, poses significant challenges in the diagnosis and treatment of atlantoaxial dislocation (AAD). While the disorder’s genetic basis is not well‐understood, the rarity of the sandwich fusion makes it difficult to study.
Guodong Gao, Yinglun Tian, Kan-Lin Hung, Dongwei Fan, Nanfang Xu, Shenglin Wang, George P. Patrinos   +6 more
wiley   +1 more source

Atlantoaxial instability associated with C2 odontoid abnormality in patients with Down syndrome: description of two clinical cases with the author’s modification of stabilization

Хирургия позвоночника
Objective. To present two clinical cases of successful surgical treatment of atlantoaxial instability in Down syndrome patients with os odontoideum. Material and Methods.
A.V. Stepanenko, K.V. Sysoev, D.S. Godanyuk, D.A. Gulyaev, V.V. Stepanenko, A.V. Kim   +5 more
doaj   +1 more source

Machined cervical interfacet allograft spacers for the management of atlantoaxial instability

Journal of Craniovertebral Junction and Spine, 2017
Background: The use of cervical interfacet spacers (CISs) to augment stability and provide solid arthrodesis at the atlantoaxial joint has not been studied in detail.
Mazda K Turel, Mena G Kerolus, Vincent C Traynelis   +2 more
doaj   +1 more source

Problems in Instrumentation of Syndromic Craniovertebral Junction Anomalies – Case Reports [PDF]

Neurospine, 2019
The aim of this study is to highlight the complications of instrumentation in the setting of syndromic craniovertebral junction (CVJ) anomalies. The records of patients with syndromic CVJ anomalies treated by this author during the period of 2012–2017 ...
Natarajan Muthukumar
doaj   +1 more source

Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature

Indian Journal of Neurosurgery, 2014
Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified
Jayesh C. Sardhara, Kumar Ashish, Anant Mehotra, Arun K. Srivastava, Kuntal K. Das   +4 more
doaj   +1 more source

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 more
wiley   +1 more source

The jigsaw sign. A reliable indicator of congenital aetiology in os odontoideum

, 2004
There is evidence in the literature for both a congenital and a post-traumatic aetiology for os odontoideum. In no series published to date has CT been used to aid in the diagnosis.
Askin, Geoffrey N., Fagan, Andrew B., Earwaker, John W. S.   +2 more
core   +2 more sources

Issue Information

Orthopaedic Surgery, Volume 18, Issue 10, Page 2013-2014, October 2026.
wiley   +2 more sources