Results 41 to 50 of about 5,413 (169)
Persistent Acute Onset Macroglossia Treated with Compression Therapy
Case Reports in Otolaryngology, 2017 Acute macroglossia, while rare and often limited in duration, can present significant management challenges. The anatomic position of the tongue, which can result in airway compromise in cases of enlargement, contributes significantly to difficulty with ...
Sean M. Johnson +2 more
doaj +1 more source
Clinical Case Reports, 2021 In chronic polyarthritis, the presence of macroglossia with absence of rheumatoid factor and anti‐CCP antibodies may be suggestive of amyloid arthopathy. Clinical evaluation takes precedence over classification criteria.
Rova Malala Fandresena Randrianarisoa +8 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.Histopathological examination of an abdominal fat pad core needle biopsy demonstrating Congo red–positive amyloid deposition, confirming systemic amyloidosis. Representative photomicrographs illustrate characteristic amyloid deposits at low‐ and high‐power magnification.
Malegna Temesgen Garuma +2 more
wiley +1 more source
Partial glossectomy as an auxiliary method to orthodontic treatment of dentofacial deformity
International Archives of Otorhinolaryngology, 2012 Summary Introduction: macroglossia is a condition which influences the size and shape of the teeth employed due to the forces on teeth. Objective: To establish bases for the indication of partial glossectomy associated with ...
Fued Samir Salmen +1 more
doaj +3 more sources
Journal of Indian Association of Pediatric Surgeons, 2020 Introduction: The management of lymphatic malformations (LMs) continues to improve with advancement in molecular genetics, imaging, and treatment options.
Gaurav Parashar +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang +7 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide
Case Reports in Hematology, 2018 A 70-year-old female presented with a three-year history of evolving macroglossia causing dysphagia and dysarthria, with proximal muscle weakness.
Jithma P. Abeykoon +4 more
doaj +1 more source
Duas formas de apresentação da amiloidose em ORL
Revista Portuguesa Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, 2012 Objectivo: Apresentação de dois casos clínicos de amiloidose com apresentação em ORL, assim como uma revisão teórica sobre esta patologia, nomeadamente a forma de apresentação clínica, diagnóstico e opções terapêuticas.
Maria Inês Silva +6 more
doaj +1 more source
Beckwith‐Wiedemann syndrome with macroglossia as the most significant manifestation: A case report
Clinical Case Reports, 2021 Beckwith‐Wiedemann syndrome is a complex multisystem disorder that requires collaboration of medical and dental teamfor its diagnosis and management. We present a dental overview and an update of the clinical and molecular diagnoses of Beckwith‐Wiedemann
Shatha Lamfoon +3 more
doaj +1 more source