Results 41 to 50 of about 6,234 (200)
Reduction glossectomy for macroglossia in children
, 2018 Background/aim: Although several surgical techniques have been described for reduction glossectomy in children, many general pediatric surgeons are still skeptical about the treatment of patients with macroglossia because of potential surgical ...
Almetaher, Hisham A. +2 more
core +1 more source
A case report on Beckwith-Wiedemann syndrome with macroglossia
, 2023 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by the overgrowth of various body parts and an increased risk of certain types of cancer. One of the physical features of BWS is macroglossia or an enlarged tongue.
K. Arun Chander, Jefferey Joel, Priya A.
core +1 more source
Utilization and Prognosis of Cardiac Device Implantation in AL Versus ATTR Amyloidosis
Pacing and Clinical Electrophysiology, EarlyView.ABSTRACT Introduction Cardiac amyloidosis can cause congestive heart failure, arrhythmias, and heart blocks, which frequently require cardiac device implantation (CDI). However, the differences between light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis CDI requirements are unknown. Methods A retrospective analysis was conducted using the
Bilal Hussain +7 more
wiley +1 more source
Shoulder pad and macroglossia: “two signs of AL amyloidosis”
Clinical Case Reports, 2021 “Shoulder pad” sign resulting from deposition of amyloid in the periarticular soft tissue is rare but it is pathognomonic for immunoglobulin amyloidosis (AL). Although the detection remains a challenge, it gives a strong clue leading to prompt diagnosis.
Navaneethakrishnan Suganthan +2 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
Treatment of macroglossia in Beckwith-Wiedemann syndrome
, 2006 A case of macroglossia caused by Beckwith Wiedemann syndrome is reported. Beckwith-Wiedemann Syndrome is an overgrowth disorder characterized by a constellation of congenital anomalies.
CLAUSER, Luigi, R. Tieghi, J. Polito
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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
Surgical management of macroglossia: Discussion of 7 cases
, 2002 OBJECTIVE: We present an overview of international literature concerning macroglossia-related etiology, clinical and instrumental diagnoses, surgical treatments, complications, and recurrences.
BECELLI, Roberto +4 more
core +2 more sources
Macroglossia: multifactorial etiology, multiple management
, 2006 Macroglossia designates a condition where the tongue in rest position protruyes beyond the alveolar edge. The tongue is an important structure in vital functions as swallowing, phonation and breathing.
Laura Pilar Martínez
core +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