BWS is one of the more common overgrowth syndromes and is characterised by macrosomia, macroglossia
and anterior abdominal wall defects.
sup] We also confirmed that macroglossia
resulting in dysarthria may occur in the patients with hereditary TTR amyloidosis, though that is more common in patients with light-chain amyloidosis.
Amyloid involvement of the oral tissues is rather rare; when it does occur, the tongue is the most frequent location, and amyloidosis in this area usually manifests as rubbery or firm macroglossia
A autora reconhece que, de fato, alguns desses disturbios de fala, apresentados por pessoas com SD, assim como fazem outros pesquisadores, podem ser atribuidos a problemas como disartria e/ou dispraxia, ocasionados ou nao pela macroglossia
e/ou hipotonia muscular (cf.
Carpal tunnel syndrome, subcutaneous amyloid deposition, macroglossia
, cardiomyopathy, and nephropathy are other clinical manifestations.
Inability to retain saliva within the mouth- poor head control, constant open mouth, poor lip control, disorganized tongue mobility, decreased tactile sensation, macroglossia
, dental malocclusion, nasal obstruction.
On examination, common signs include myxedematous facies, large fontanels, macroglossia
, a distended abdomen with umbilical hernia, and hypotonia.
4) Lymphangiomas are the most common cause of macroglossia
Risk factors for OSA include obesity, retrognathia/micrognathia, macroglossia
, narrow palate and hypertrophy of the tonsil region.
Classic phenotypic findings include brachycephaly, epicanthal folds, palpebral fissures, macroglossia
, neck skinfolds, clinodactyly, single transverse palmar creases, and widely spaced first and second toes (Nehring, 2010).
Of the 64 cases of malformations in topiramate-exposed pregnancies reported to the Food and Drug Administration's Adverse Event Reporting System (AERS), almost 33% (21 cases) were craniofacial abnormalities, which included 11 reports of cleft lip and/or palate reports, 6 reports of facial dysmorphism, 4 reports of micrognathia, 3 cases of skull deformation and ossification abnormalities, and 1 case of macroglossia
A specific note of the following abnormalities was made; macroglossia
, pharyngeal crowding, bulky uvula, retrognathia, tonsillar enlargement and deviated nasal septum.
Patients with DS generally have obstructed airway issues due to macroglossia
(enlarged tongue), increased secretions, obesity, enlarged tonsils and adenoids.
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous disorder characterized by macrosomia, macroglossia
, hemihypertrophy, transverse creases of the ear lobes, hypoglycemia, and predisposition to childhood tumors.
In the patients affected by macroglossia
a reduced number of capillary density was observed and it was correlated to the deposition of proteinaceous ground substance.