Results 71 to 80 of about 21,399,247 (215)

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 12, Page 2188-2195, November 2026.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo   +8 more
wiley   +1 more source

Headache in Children With Chiari I Malformation

open access: yes, 2014
Background Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum.
GATTA, MICHELA   +7 more
core   +1 more source

Chiari type I malformation with cervicothoracic syringomyelia subterfuge as flail arm syndrome

open access: yesNeurology International, 2017
Chiari type I malformation with cervicothoracic syringomyelia although very common in clinical practice usually in children can progress slowly and mimic muscular dystrophies in adulthood.
Zhi Gang  Lan   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

open access: yesClinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart   +17 more
wiley   +1 more source

Spinal neuraxial anaesthesia for caesarean section in a parturient with type I Arnold Chiari malformation and syringomyelia

open access: yesSAGE Open Medical Case Reports, 2018
Introduction: Type 1 Arnold Chiari malformation is associated with prolapse of the cerebellar tonsils into or below the level of the foramen magnum and is usually diagnosed in adults.
Miqi Mavis Teo
doaj   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

open access: yesArthritis Care &Research, Volume 78, Issue 10, Page 1449-1466, October 2026.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci   +25 more
wiley   +1 more source

Symptomatic Chiari I malformation in Kabuki syndrome

open access: yes, 2005
Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome.
Donnai, Dian   +11 more
core   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

open access: yesFrontiers in Pediatrics
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations.
Aelita Kamalova   +12 more
doaj   +1 more source

Headache and Chiari Type I Malformation

open access: yesPediatric Neurology Briefs, 1992
Headache was the presenting symptom in 5 of 6 patients with Chiari type malformation, reported from the Departments of Neurology and Neurosurgery, Trondheim University Hospital, Norway.
J Gordon Millichap
doaj   +1 more source

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