[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

F Brioude, JM Kalish, A Mussa, AC Foster… - Nature Reviews …, 2018 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Assessment and causes of stridor

A Pfleger, E Eber - Paediatric respiratory reviews, 2016 - Elsevier
Stridor is a variably pitched respiratory sound, caused by abnormal air passage during
breathing and often is the most prominent sign of upper airway obstruction. It is usually …

Reduction glossectomy for large tongues

SM Balaji - Annals of Maxillofacial Surgery, 2013 - journals.lww.com
Pathological enlargement of tongue is caused by several conditions and diseases. In
several instances, surgery remains the only viable option for complete cure. Persistent …

The utility of early tongue reduction surgery for macroglossia in Beckwith-Wiedemann syndrome

JL Cohen, CM Cielo, J Kupa, KA Duffy… - Plastic and …, 2020 - journals.lww.com
Background: Macroglossia, a cardinal feature of the (epi) genetic disorder Beckwith-
Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding …

Tongue reduction in Beckwith–Wiedemann syndrome: Outcome and treatment algorithm

H Naujokat, B Möller, H Terheyden, F Birkenfeld… - International journal of …, 2019 - Elsevier
Beckwith–Wiedemann syndrome is a rare congenital overgrowth disorder with macroglossia
being one of the cardinal symptoms. In pronounced cases, macroglossia can lead to airway …

Oral health-related quality of life among children and adolescents with Beckwith–Wiedemann syndrome in northern Italy

P Defabianis, R Ninivaggi, F Romano - Journal of Clinical Medicine, 2022 - mdpi.com
Due to associated maxillofacial growth anomalies and the impairment of oral functions,
macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of …

Macroglossia in rapidly progressive inclusion body myositis

Y Yamasaki, A Mukaino, S Yamashita… - …, 2023 - Wiley Online Library
Inclusion body myositis (IBM) is a refractory muscle disease characterized by inflammatory
and degenerative features in myofibers. Macroglossia is common in systemic amyloid light …

Prevalence of sleep-disordered breathing in patients with Beckwith-Wiedemann syndrome

A Follmar, K Dentino, S Abramowicz… - Journal of Craniofacial …, 2014 - journals.lww.com
Purpose Patients with Beckwith-Wiedemann syndrome (BWS), a genetic disorder
characterized by macroglossia, abdominal wall malformations, and gigantism, are at risk for …

Taste and speech following surgical tongue reduction in children with Beckwith–Wiedemann syndrome

SM Maas, DJ Kadouch, ACCM Masselink… - Journal of Cranio …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder in which macroglossia is
one of the main signs. We investigated the long-term outcome of tongue surgery reduction …

Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome

CM Cielo, KA Duffy, A Vyas, JA Taylor… - Paediatric respiratory …, 2018 - Elsevier
Beckwith-Wiedemann syndrome (BWS) is a rare paediatric overgrowth disorder. Associated
macroglossia is a feature of many children with BWS and is felt to be a risk factor for …