Results 81 to 90 of about 15,355 (176)

Eustachian Tube Opening in Children With and Without Cleft Palate and Association With Otitis Media

The Laryngoscope, Volume 136, Issue 10, Page 4542-4551, October 2026.
Using transnasal endoscopy in 50 children, structural abnormalities of the torus tubarius—particularly the posterior lip—were significantly more common in children with cleft palate than in those without (52% vs. 20%). Adenoid size, dynamic Eustachian tube opening visibility, and the Eustachian Tube Inflammation Scale correlated with middle ear status ...
Kawin Atipas, Kitirat Ungkanont, Archwin Tanphaichitr, Vannipa Vathanophas, Thanakrit Wannarong   +4 more
wiley   +1 more source

Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives

Eye and Brain, 2021
Michael Duan,1 Jesse Skoch,2 Brian S Pan,3 Veeral Shah4,5 1Baylor College of Medicine, School of Medicine, Houton, TX, USA; 2Cincinnati Children’s Hospital Medical Center, Division of Pediatric Neurosurgery, Cinicinnati, OH, USA; 3Cincinnati ...
Duan M, Skoch J, Pan BS, Shah V
doaj  

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

Journal of Pediatric Neurosciences, 2015
Background: Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet.
Mayadhar Barik, Minu Bajpai, Arun Malhotra, Jyotish Chandra Samantaray, Sadananda Dwivedi, Sambhunath Das   +5 more
doaj   +1 more source

Tympanostomy Tube Placement: The Effect of Location on Tube Retention and Risk of Perforation

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 5, October 2026.
Study examined the effect of tympanostomy tubes placed in the anterior‐inferior quadrant versus the posterior‐inferior quadrant. The study investigated if there was a difference in risk of early extrusion and risk of tympanic membrane perforation based on tube location.
Jason G. May, Eric Y. Du, Jacob A. Thoenen, Eliav Gov‐Ari, Arnaldo L. Rivera   +4 more
wiley   +1 more source

Epidemiology of craniosynostosis in Norway

, 2020
OBJECTIVE The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases.
Stadheim, Barbro F., Heimdal, Ketil R., Due-Tønnessen, Bernt J., Tønne, Elin, Meling, Torstein Ragnar, Helseth, Eirik, Wiig, Ulrikke, Wiig, Ulrikke Straume, Heimdal, Ketil Riddervold, Due-Tønnessen, Bernt Johan, Stadheim, Barbro, Meling, Torstein   +11 more
core   +1 more source

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
doaj   +1 more source

Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund‐Thomson Syndrome: Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A Chinese patient with Rothmund‐Thomson syndrome type 2 carried compound heterozygous RECQL4 variants, including a novel frameshift variant c.2053del (p.Asp685Thrfs*5). The patient also presented with gynecomastia and low testosterone, a previously unreported endocrine phenotype.
Yuanyuan Wang, Lulu Li, Chunjiao Zheng, Min Li, Qian Yu   +4 more
wiley   +1 more source

Chiari malformation associated with craniosynostosis

, 2011
Object Chiari malformation (CM) Type I is frequently associated with craniosynostosis. Optimal management of CM in patients with craniosynostosis is not well-established.
Steven R. Buchman, Jennifer Strahle, Cormac O. Maher, Karin M. Muraszko, Joseph Kapurch, Hugh J. L. Garton   +5 more
core   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, Volume 46, Issue 11, Page 1721-1731, October 2026.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Craniosynostosis: the brain & sleep [PDF]

, 2020
This thesis investigates obstructive sleep apnea and intracranial hypertension in syndromic craniosynostosis.
Goederen, R. (Robbin) de
core   +1 more source