Results 31 to 40 of about 5,413 (169)

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

open access: yesOrthodontics &Craniofacial Research, EarlyView.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato   +5 more
wiley   +1 more source

Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem?

open access: yesB-ENT, 2014
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? A 55-year-old woman was operated in the lateral park bench position with significant neck flexion and oral packing.
G. Vermeersch   +5 more
doaj   +2 more sources

Lymphangioma of the Tongue - A Case Report and Review of Literature [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2014
Lymphangiomas are benign tumours resulting from a congenital malformation of the lymphatic system. They are relatively uncommon and usually diagnosed in infancy and early childhood. Commonly located at head and neck, they rarely occur in the oral cavity.
Usha V   +4 more
doaj   +1 more source

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes   +4 more
wiley   +1 more source

Acute Macroglossia Post Craniotomy in Sitting Position: A Case Report and Proposed Management Guideline

open access: yesInternational Medical Case Reports Journal, 2020
Omar Ababneh,1 Subhi Alghanem,1 Abdulrahman Al-Shudifat,2 Lubna Khreesha,3 Salameh Obeidat,4 Isam Bsisu1 1Department of Anesthesia and Intensive Care, School of Medicine, The University of Jordan, Amman, Jordan; 2Division of Neurosurgery, Department of ...
Ababneh O   +5 more
doaj  

Cardiac Amyloidosis, An Infiltrative Heart Disease Presenting as Arrhythmia-A Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Cardiac amyloidosis is a manifestation of amyloidosis which is a multisystem disorder. This is difficult to diagnose, rare disease which eventually leads to the mortality.
B Magesh   +4 more
doaj   +1 more source

Transoral Robotic Surgery Versus Traditional Lingual Tonsillectomy for Persistent Pediatric Sleep Apnea

open access: yesLaryngoscope Investigative Otolaryngology, Volume 11, Issue 4, August 2026.
ABSTRACT Objectives This study compares postoperative outcomes of transoral robotic surgery (TORS) and traditional lingual tonsillectomy in pediatric patients with persistent obstructive sleep apnea (OSA) following tonsillectomy and adenoidectomy (T&A).
Mona Dabbas   +5 more
wiley   +1 more source

Primary systemic amyloidosis [PDF]

open access: yesVojnosanitetski Pregled, 2007
Background. Systemic amyloidosis is a rare disorder which usually occurs in aged persons and has a poor prognosis. Systemic amyloidosis can be primary, occasionally associated with multiple myeloma, or secondary, associated with another disease.
Tanasilović Srđan   +5 more
doaj   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

open access: yesPrenatal Diagnosis, Volume 46, Issue 9, Page 1486-1493, August 2026.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly   +10 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

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