scholarly journals Craniofacial Syndrome Identification Using Convolutional Mesh Autoencoders

2021 ◽  
Author(s):  
Eimear O'Sullivan ◽  
Lara Sophie van de Lande ◽  
Athanasios Papaioannou ◽  
Richard W.F. Breakey ◽  
N. Owase Jeelani ◽  
...  
Keyword(s):  
Craniofacial Syndrome

Tracheotomy removal after early mandibular advancement in patients with pediatric craniofacial syndrome

1997 ◽  
Vol 117 (6) ◽  
pp. S187-S191 ◽  
Author(s):  
D NUNN ◽  
C DERKAY ◽  
D DARROW ◽  
W MAGEE
Keyword(s):  
Mandibular Advancement ◽  
Craniofacial Syndrome

scholarly journals Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

2020 ◽  
Vol 09 (03) ◽  
pp. 158-163
Author(s):  
Mikaela I. Poling ◽  
Craig R. Dufresne ◽  
Rodger J. McCormick
Keyword(s):  
Quality Of Life ◽  
Systematic Review ◽  
Guideline Development ◽  
Spinal Deformities ◽  
Careful Planning ◽  
Spinal Curvatures ◽  
Management Of Rehabilitation ◽  
Craniofacial Syndrome ◽  
Clinical Practice Guideline Development

AbstractFreeman–Burian syndrome, formerly Freeman–Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

Fluid Structure Interactions in the Eustachain Tube Under Normal and Pathological Conditions

2007 ◽  
Author(s):  
Amanda E. Warrick ◽  
J. Douglas Swarts ◽  
Samir N. Ghadiali
Keyword(s):  
Soft Tissue ◽  
Cleft Palate ◽  
Middle Ear ◽  
Psychosocial Development ◽  
Hard Palate ◽  
Collapsible Tube ◽  
Fluid Structure Interactions ◽  
Surrounding Soft Tissue ◽  
Pathological Conditions ◽  
Craniofacial Syndrome

Cleft Palate is a craniofacial syndrome in which the two plates that form the hard palate are not completely joined. As a result, the soft tissue anatomy of the Eustachian Tube (ET) is altered. The ET is a collapsible tube which connects the middle ear (ME) with the nasopharynx (NP). The ET must be periodically opened to equalize ME and NP pressures and drain ME fluids. In healthy adults, ET openings occur during swallowing, where muscle contraction deforms the surrounding soft tissue. However, changes in tissue anatomy may lead to ET dysfunction (i.e. closure during swallowing) and the development of ME disorders such as Otitis Media (OM)[1]. These disorders are especially problematic in infants with cleft palate as they hinder speech, hearing and psychosocial development. Although surgical procedures can be used to repair a cleft palate, these procedures do not typically account the possible development of ET dysfunction and/or OM.

Effect of the Visual Presentation of a Craniofacial Syndrome on Speech Intelligibility in Noise

2019 ◽  
Vol 56 (8) ◽  
pp. 1038-1043
Author(s):  
Tim Bressmann ◽  
Tamara Eick ◽  
Jennifer Pardo
Keyword(s):  
Speech Intelligibility ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Visual Presentation ◽  
Future Research ◽  
Previous Knowledge ◽  
Facial Motion ◽  
Speech Stimuli ◽  
Craniofacial Syndrome ◽  
Intelligibility Ratings

Objective: Research has argued that a speaker’s facial appearance can result in an “intelligibility cost” for the listener. The study investigated whether such an intelligibility cost exists for a visible repaired cleft lip and nasal asymmetry. Setting: University department. Participants: Eight typical speakers provided speech samples. Twenty-eight naive listeners participated in a speech in noise experiment. Interventions: Listeners transcribed sentences in noise that were paired with faces of individuals with repaired cleft lip and nasal asymmetry or typical faces. They also rated speaker intelligibility and answered a questionnaire about their previous knowledge about cleft lip and palate. Main Outcome Measures: Percentage of words transcribed correctly and intelligibility ratings, compared by experimental condition (photo of typical face or face with repaired cleft lip and nasal asymmetry) and speaker gender. Results: There were no statistically significant differences between speech stimuli that were presented with faces with repaired cleft lip and nasal asymmetry or typical faces. The percentage of words transcribed correctly by the listeners was lower for female speakers ( F = 12.7, df = 1; P < .01). Speech intelligibility of female speakers was rated more poorly ( F = 10.5, df = 1; P < .01). Conclusions: Presence of a repaired cleft lip and nasal asymmetry did not result in an intelligibility cost for naive listeners. Future research should investigate possible effects of facial motion or previous knowledge.

scholarly journals ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

2016 ◽  
Vol 99 (2) ◽  
pp. 451-459 ◽  
Author(s):  
Kosuke Izumi ◽  
Maggie Brett ◽  
Eriko Nishi ◽  
Séverine Drunat ◽  
Ee-Shien Tan ◽  
...  
Keyword(s):  
Craniofacial Syndrome

scholarly journals Using human sequencing to guide craniofacial research

2018 ◽  
Author(s):  
Ryan P. Liegel ◽  
Erin Finnerty ◽  
Lauren Ward ◽  
Andrew DiStasio ◽  
Robert B. Hufnagel ◽  
...  
Keyword(s):  
Genetic Research ◽  
Genomic Analysis ◽  
Index Patient ◽  
Causal Variant ◽  
Craniofacial Development ◽  
Technological Innovations ◽  
Craniofacial Anomalies ◽  
Sequencing Studies ◽  
Craniofacial Syndrome ◽  
Rapid Generation

ABSTRACTA recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have dropped in price significantly making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants. Here we summarize the choices currently available to the research community. We illustrate this approach with the study of a family with a novel craniofacial syndrome with dominant inheritance pattern. The genomic analysis suggest a causal variant in AMOTL1 which we modeled in mice. We also made a novel deletion allele of Amotl1. Our results indicate that Amotl1 is not required in the mouse for survival to weaning. Mice carrying the variant identified in the human sequencing studies, however, do not survive to weaning in normal ratios. The cause of death is not understood for these mice complicating our conclusions about the pathogenicity in the index patient. Thus, we highlight some of the powerful opportunities and confounding factors confronting current craniofacial genetic research.

Sign in / Sign up

Export Citation Format

Share Document