Results 1 to 10 of about 6,705 (199)

Self-Induced Traumatic Macroglossia: Case Report and Literature Review

Case Reports in Otolaryngology, 2019
Traumatic macroglossia is an extremely rare condition characterized by a sudden edematous swelling of the tongue due to trauma. We report a rare case of traumatic macroglossia in a 37-year-old male with known trisomy 21 and epilepsy who presented to the ...
Abdullah A. Alarfaj, Ali R. AlHayek, Rashid Alghanim, Nasser A. Al-Jazan   +3 more
doaj   +2 more sources

Tailored Anaesthesia in Paediatric Beckwith-Wiedemann Syndrome: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Beckwith-Wiedemann Syndrome (BWS) is a complex overgrowth disorder characterised primarily by macroglossia, omphalocele, and gigantism, along with a range of anatomical and metabolic abnormalities such as neonatal hypoglycaemia, embryonal tumours ...
Garima Anant, Gr Sreenath, Urmi Malik, Paras   +3 more
doaj   +1 more source

Macroglossia Associated With Clobazam Administration: A Case Report and Literature Review

Frontiers in Neurology, 2022
Clobazam is a benzodiazepine derivative used as an antiepileptic agent for the treatment of focal and generalized seizures and drug-resistant epilepsy associated with Lennox-Gastaut Syndrome.
Jeff F. Zhang, Kevin Nickerson, Ravi Piryani, Osman Farooq, Anil K. Swayampakula   +4 more
doaj   +1 more source

Reduction Glossoplasty for Congenital Macroglossia by Keyhole Technique: A Case Report

Egyptian Journal of Plastic and Reconstructive Surgery
Background: Macroglossia is a term used to describe a large tongue which protrudes outside of the mouth while in a resting position. It is relatively an uncommon condition in children.
Ahmed Ali
doaj   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Management of Congenital Macroglossia Due to Lymphatic Malformation in a Child with Review of Literature

Journal of Indian Association of Pediatric Surgeons
Lymphangiomas are uncommon congenital hamartomas of the lymphatic system with a marked predilection for the head-and-neck region accounting for 75% of all cases. Lymphangiomas rarely affect the oral cavity.
Sushma Achugatla, Surendra Singh, Sonia Thakur, Rajeev Redkar   +3 more
doaj   +1 more source

Surgical management of macroglossia in children: two case reports [PDF]

Einstein (São Paulo), 2007
Congenital macroglossia is associated with a variety of syndromes, mostcommonly Down syndrome and Beckwith-Widemann syndrome. Clinically,macroglossia may impair the airways, cause dysphagia and poor cosmesis.A variety of treatments have been proposed and
Maurício Macedo, Karine Furtado Meyer
doaj  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

A phenomap of TTR amyloidosis to aid diagnostic screening

ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +1 more source