Results 31 to 40 of about 782 (173)

Radiological Imaging Findings of Basilar Invagination

Van Tıp Dergisi, 2020
INTRODUCTION: To evaluate craniometric measurements and accompanying additional pathologies in cases with basilar invagination on radiological imaging.
Murat Beyhan, Erkan Gökçe, Yaşar Birişik   +2 more
doaj   +1 more source

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. [PDF]

Orthod Craniofac Res, 2023
INTRODUCTION: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.
Marulanda J, Retrouvey JM, Lee B, Sutton VR, Members of the BBDC, Rauch F, Briner M.   +6 more
europepmc   +3 more sources

PLATYBASIA WITH INVOLVEMENT OF THE CENTRAL NERVOUS SYSTEM

Annals of Surgery, 1942
Bronson S Ray, B S Ray
exaly   +4 more sources

Treatment of Chiari malformations with craniovertebral junction anomalies: Where do we stand today?

World Neurosurgery: X, 2023
Background: Chiari malformation type 1 (CM-1) is characterized by cerebellar tonsil herniation through the foramen magnum and can be associated with additional craniovertebral junction anomalies (CVJA).
Sima Vazquez, Jose F. Dominguez, Ankita Das, Sauson Soldozy, Merritt D. Kinon, John Ragheb, Simon J. Hanft, Ricardo J. Komotar, Jacques J. Morcos   +8 more
doaj   +1 more source

Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome

The Laryngoscope, Volume 133, Issue 10, Page 2813-2820, October 2023., 2023
Objective Patients with 22q11.2 deletion syndrome (22q11DelS) often present with velopharyngeal dysfunction (VPD). VPD in patients with 22q11DelS is multifactorial beyond velopharyngeal insufficiency (VPI) alone, and differences in surgical outcomes are poorly understood.
Prasanth Pattisapu, Sara Kinter, Randall A. Bly, John P. Dahl, Jonathan A. Perkins, Xing Wang, Kathleen C. Y. Sie   +6 more
wiley   +1 more source

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 2, Page 188-192, June 2023., 2023
Abstract Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally ...
Alexander Beke, Karina da Costa Silveira, Taryn Athey, Peter Kannu   +3 more
wiley   +1 more source

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Epilepsia, Volume 64, Issue 5, Page 1351-1367, May 2023., 2023
Abstract Objective WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX‐DEE, and investigated genotype–phenotype correlations, particularly with regard to survival.
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer   +22 more
wiley   +1 more source

Chiari malformation and its influence on trigeminal neuralgia: a systematic review. [PDF]

Ann Med Surg (Lond)
Objective:In order to properly understand the correlation between TN and Chiari malformation type I (CMI), it is imperative to delve into the underlying processes and develop efficacious treatment strategies.Methods:A comprehensive search was performed ...
Badary A, Almealawy YF, Florez-Perdomo WA, Sanker V, Andrew Awuah W, Abdul-Rahman T, Salam Alabide A, Alrubaye SN, Saleh A, Ergen A, Chaurasia B, Azab MA, Atallah O.   +12 more
europepmc   +2 more sources

Craniofacial morphology in adults with osteogenesis imperfecta—A cross‐sectional study

Orthodontics &Craniofacial Research, Volume 26, Issue 2, Page 248-255, May 2023., 2023
Abstract Objectives The aim of this study was to compare the craniofacial and neurocranial morphology of adults with osteogenesis imperfecta (OI) with controls and to elucidate whether osseous origin impacts on morphological deviations in OI. Materials and Methods Fifty‐four adults (mean age 45.8) with OI type I, 14 adults (mean age 42.6) with OI types
Hans Gjørup, Pernille Endrup Jacobsen, Jannie Dahl Hald, Dorte Haubek   +3 more
wiley   +1 more source

Endoscopic endonasal approach to the craniovertebral junction

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 8, Issue 1, Page 16-24, March 2022., 2022
Abstract The surgical approach to lesions of the ventral craniovertebral junction (CVJ) has evolved significantly in the last several years with the advent of endoscopic skull base surgery. Differing pathologies of the CVJ can result in irreducible compression of the cervicomedullary region.
Ashleigh A. Halderman, Samuel L. Barnett
wiley   +1 more source