Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

[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 …

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

R Savarirayan, DE Tunkel, LM Sterni, MB Bober… - Orphanet journal of rare …, 2021 - Springer
Background Recognition and appropriate management of the craniofacial manifestations of
patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and …

Neural crest-specific loss of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction and disordered breathing, modeling obstructive sleep apnea

P Baddam, V Biancardi, DM Roth… - Disease Models & …, 2021 - journals.biologists.com
Pediatric obstructive sleep apnea (OSA), a relatively common sleep-related breathing
disorder affecting∼ 1-5% of children, is often caused by anatomical obstruction and/or …

Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects

G Holmes, C O'Rourke, SM Motch Perrine… - …, 2018 - journals.biologists.com
Midface dysgenesis is a feature of more than 200 genetic conditions in which upper airway
anomalies frequently cause respiratory distress, but its etiology is poorly understood. Mouse …

Arthrogryposis multiplex congenita: dental and maxillofacial phenotype—A scoping review

D Taqi, S Nematollahi, S Lemin, F Rauch, R Hamdy… - Bone, 2023 - Elsevier
Introduction Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of
disorders associated with decreased fetal movement, with a prevalence between 1/3000 …

Multidisciplinary Treatment in Patients with Craniofacial, Neurocognitive, and Neuromuscular Disorders with Obstructive Sleep Apnea: A Systematic Review of the …

JF Beltran, OE Ramirez, A Carrillo, E López… - Pediatric …, 2024 - journals.healio.com
Obstructive sleep apnea (OSA) is a respiratory disorder that has a high prevalence in
patients with craniofacial, neurocognitive, and neuromuscular disorders. Currently, the …

Neonatal intermittent hypoxia induces lasting sex-specific augmentation of rat microglial cytokine expression

EA Kiernan, T Wang, AM Vanderplow… - Frontiers in …, 2019 - frontiersin.org
Sleep disordered breathing (SDB) affects 3–5% of the pediatric population, including
neonates who are highly susceptible due to an underdeveloped ventilatory control system …

Periodontal effects of two Somnodent oral devices for the treatment of OSA: A finite element study

F Zalunardo, G Bruno, M Caragiuli, M Mandolini… - CRANIO®, 2024 - Taylor & Francis
Objective The study aims to evaluate the stresses and the deformations generated at the
periodontal level by two mandibular advancement devices (MADs) using finite element …

Craniofacial surgery and specific airway problems

AG Garcia‐Marcinkiewicz, PA Stricker - Pediatric Anesthesia, 2020 - Wiley Online Library
Infants and children undergoing craniofacial surgery may present with a wide range of
diseases and conditions posing an array of challenges to the anesthesiologist. Optimal …