Search results for "Macroglossia"

Rational Management of Macroglossia Due to Acquired Systemic Amyloidosis: Does Surgery Play a Role?

2008

Beckwith–Wiedemann syndrome: multiple molecular mechanisms

2006

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal features are abdominal wall defects, macroglossia and gigantism. BWS is generally sporadic; only 10–15% of cases are familial. A variety of molecular aberrations have been associated with BWS. The only mutations within a gene are loss-of-function mutations in the CDKN1C gene, which codes for an imprinted cell-cycle regulator. CDKN1C mutations appear to be particularly associated with umbilical abnormalities, but not with increased predisposition to Wilms' tumour. In the remaining BWS subgroups, a disturbance of the tight epigeneti…

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation a…

2016

Background Beckwith–Wiedemann syndrome (BWS) is an early-onset overgrowth disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of imprinted genes on chromosome 11p15.5; however, the driving forces in the development of tumors are not fully understood. Procedure We report on a female patient presenting with macrosomia, macroglossia, organomegaly and extensive bilateral nephroblastomatosis. Adjuvant chemotherapy was initiated; however, the patient developed hepatoblastoma and Wilms tumor at 5 and 12 months of age, respectively. Subsequent radiofrequency ablation of the liver tumor and partial nephrectomy followed by consolidation therapy achieved complete remis…

Beckwith-Wiedemann Syndrome: Open bite evolution after tongue reduction

2018

Background Macroglossia causes functional deficits such as airway obstruction, drooling, phonation difficulties, and leads to protrusion of dentoalveolar structures resulting in an anterior open bite and a prognathic mandibular appearance. Macroglossia is present in the majority of patients with Beckwith-Wiedemann syndrome (BWS) and surgical treatment may be indicated. Material and Methods A retrospective review was conducted including BWS patients who underwent surgical tongue reduction between 2000 and 2015 at the Hospital Universitario La Paz, Madrid. Results Out of 16 patients with BWS, surgery was performed in 11 cases. Tongue protrusion with open bite was the main indication for surgi…

How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development

2018

IF 6.614 (2016); International audience; The vertebrate tongue is a complex muscular organ situated in the oral cavity and involved in multiple functions including mastication, taste sensation, articulation and the maintenance of oral health. Although the gross embryological contributions to tongue formation have been known for many years, it is only relatively recently that the molecular pathways regulating these processes have begun to be discovered. In particular, there is now evidence that the Hedgehog, TGF-Beta, Wnt and Notch signaling pathways all play an important role in mediating appropriate signaling interactions between the epithelial, cranial neural crest and mesodermal cell pop…

Tiroiditis de Hashimoto: Microcirculación Lingual y Labial en Pacientes Afectados por Macroglosia

2007

The aim of this study is to estudy lingual and labial microcirculation differences among healthy subjects and those with Hashimoto's thyroiditis affected by macroglossia. Twenty healthy patients and 20 patients suffering from Hashimoto's thyroiditis were examined. Labial and lingual capiUaroscopy were used to investigate the characteristics of microcirculation. For each patient we evaluated visibility, course, tortuosity and the possible presence of microhaemorrhages, average calibre of capillary loops and the number of visible capillary loops per square millimetre. The investigations of the labial and lingual mucous were simple, non invasive and repeatable for each patient. In Hashimoto's …