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Genes Sep 2021Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of... (Review)
Review
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the , , and genes. Genetically, the gene contains 27 exons which encodes the Treacle protein. In , over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.
Topics: Choanal Atresia; DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins; Syndrome
PubMed: 34573374
DOI: 10.3390/genes12091392 -
Plastic and Reconstructive Surgery Jan 2018A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a... (Review)
Review
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.
Topics: Abnormalities, Multiple; Animals; Choanal Atresia; Craniosynostoses; Genetic Markers; Humans; Mice; Mutation; Nasopharynx; Receptor, Fibroblast Growth Factor, Type 2; Syndrome
PubMed: 29280877
DOI: 10.1097/PRS.0000000000003928 -
Ear, Nose, & Throat Journal Feb 2021A wide and evolving range of lasers and their applications often makes it difficult for a busy surgeon to choose the ideal laser for a specific indication. With this in... (Review)
Review
OBJECTIVES
A wide and evolving range of lasers and their applications often makes it difficult for a busy surgeon to choose the ideal laser for a specific indication. With this in mind, this article aims to summarize the most recent literature concerning laser application in rhinology.
METHODS
A literature search from 2000 to 2020 using the PubMed database was employed. Keywords used included "laser," "rhinology," "endonasal endoscopic surgery," "hereditary haemorrhagic telangiectasia," "rhinitis," "refractory rhinitis," "Inferior turbinate hypertrophy," "dacryocystorhinostomy," "septoplasty," "cartilage reshaping" and "choanal atresia." The most up to date studies published for each rhinology condition that could potentially be treated with laser surgery was included.
RESULTS
Rhinological conditions appropriate for laser applications are discussed. We identified articles related to a number of applications including hereditary hemorrhagic telangiectasia, rhinitis, turbinate surgery, dacryocystorhinostomy, septoplasty, choanal atresia, and sphenopalatine artery ligation, paying attention to the outcomes of the studies and their limitations.
CONCLUSIONS
There is currently no one-size-fits-all laser and therefore being up to date on the latest clinical application results can help the clinician decide which are the best treatments to offer their patients.
Topics: Humans; Laser Therapy; Nasal Surgical Procedures; Nose Diseases; Otolaryngology; Treatment Outcome
PubMed: 32703032
DOI: 10.1177/0145561320940115 -
Laryngo- Rhino- Otologie May 2024The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary... (Review)
Review
The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.
Topics: Humans; Child; Choanal Atresia; Rhinitis; Sinusitis; Dermoid Cyst; Cystic Fibrosis; Chronic Disease
PubMed: 38697148
DOI: 10.1055/a-2178-2957