Results 131 to 140 of about 390,574 (294)

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework

PurposeThe ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities.

core   +1 more source

Characterizing Post Tonsillectomy Respiratory Complications in Patients Under Three

The Laryngoscope, EarlyView.
ABSTRACT Objective To characterize the postoperative respiratory complications in children < 3 years old who underwent tonsillectomy. Methods Retrospective chart review of patients < 3 years old at time of tonsillectomy. Demographics, comorbidities, polysomnography results, intraoperative factors, and postoperative respiratory complications ...
Nathan E. Lu, Fendi Obuekwe, Amber D. Shaffer, Marina V. Rushchak, Amanda L. Stapleton   +4 more
wiley   +1 more source

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

GROWTH OF THE CRANIOFACIAL COMPLEX

The growth of the craniofacial complex is a dynamic and coordinated biological process involving the development of the skull, face, jaws, and associated soft tissues from infancy through adulthood.
Dr Sunita Shrivastava, Dr Swapnaja Gosavi, Dr. Shivani Deshmukh   +2 more
core   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked

Objective: Diamond–Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer.
Şule Ünal, Nihan Avcu Oral, Pelin Özlem Şimşek Kiper, Fatma Gümrük, Gulare Soltanova, Ünal, Şule, ŞİMŞEK KİPER, PELİN ÖZLEM, Soltanova, Gulare, ORAL, NİHAN, Avcu Oral, Nihan, Gümrük, Fatma, Özlem Şimşek Kiper, Pelin   +11 more
core   +1 more source

Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate. [PDF]

Elife, 2019
Cibi DM, Mia MM, Guna Shekeran S, Yun LS, Sandireddy R, Gupta P, Hota M, Sun L, Ghosh S, Singh MK.   +9 more
europepmc   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Clinical Management and Outcomes of Neonatal Rhinitis Nasal Obstruction: A Scoping Review

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Neonatal rhinitis represents an underdiagnosed yet potentially serious condition in newborns. Standardized diagnostic and treatment protocols remain lacking. The objective is to review the current literature on the etiology, diagnosis, and management of neonatal rhinitis in infants ≤8 months of age.
Anthony Victor, Mathieu Bergeron
wiley   +1 more source