Results 101 to 110 of about 10,273 (227)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Influence Of Mandibular Morphology On The Hyoid Bone In Atypical Deglutition: A Correlational Study.

, 2015
evaluate the possible correlation with the radiographic position of the hyoid bone and mandibular angle in lateral radiographs of children with atypical deglutition.
Machado Jr. A.J., Crespo A.N.
core  

Premature closure of the upper esophageal sphincter as a cause of severe deglutition disorder in infancy

, 2005
Deglutition disorders in infancy are often associated with birth asphyxia or structural abnormalities in the hypopharynx, the trachea, or the esophagus.
Husby, Steffen; id_orcid, Nielsen, Rasmus, Kruse-Andersen, Søren   +2 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Adaptation and Assessment of Reliability and Validity of the Greek Version of the Ohkuma Questionnaire for Dysphagia Screening

International Archives of Otorhinolaryngology, 2017
Introduction The Ohkuma questionnaire is a validated screening tool originally used to detect dysphagia among patients hospitalized in Japanese nursing facilities.
Soultana L. Papadopoulou, Georgios Exarchakos, Dimitrios Christodoulou, Stavroula Theodorou, Alexandre Beris, Avraam Ploumis   +5 more
doaj   +1 more source

The use of cough testing in deglutition research: a scoping review

, 2020
Through this scoping review, we will answer the question of how cough testing is used in deglutition research. For this project, the field of deglutition refers to research that is contributing to the literature around the assessment or management of ...
Keri Darrock, Elizabeth Cross, Maggie-Lee Huckabee, Emma Wallace, Margaret Paterson, Phoebe Macrae   +5 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Prevalence of oral deforming habits in students between the ages of six to nine

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Background: Oral deforming habits are risk factors for malocclusions.Objectives: To characterize the prevalence of oral deforming habits in students between the ages of six and nine enrolled at Julian Santana Primary School during the first semester of ...
Yadamí Álvarez Utria, Yelena González Rodríguez, Maydelyn Ureña Espìnosa, Yadira Rodríguez González   +3 more
doaj  

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source