ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Anesthetic Management of a Pediatric Patient With Pfeiffer Syndrome.Anesthesia progress · 2024Article
- New developments in the biology of fibroblast growth factors.WIREs mechanisms of disease · 2022Review
- Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.The American journal of case reports · 2021Article
- Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.Scientific reports · 2021Article
- Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.The Laryngoscope · 2021Article
- Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome.International journal of pediatric otorhinolaryngology · 2020Article
- Slide Tracheoplasty to Repair Stenotic Tracheal Cartilaginous Sleeve with Advanced Surgical Planning.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2020Article
- Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.Frontiers in genetics · 2020Article
- A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome.Pediatric radiology · 2018Article
- Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.Development (Cambridge, England) · 2018Article
- Clinical genetics of craniosynostosis.Current opinion in pediatrics · 2017Review
- Analysis of theBiology open · 2017Article
- Fibroblast Growth Factor Receptor 2 (International journal of biological sciences · 2017Review
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
purposeBecause a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis.
methodsChart review of patients with syndromic craniosynostosis across two institutions.
resultsIn a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS was found in 19, for an overall prevalence of 22%. FGFR2, TWIST1, and FGFR3 mutations were identified in children with TCS. All five children with a W290C mutation in FGFR2 had TCS, and most previously reported children with W290C had identification of TCS or early death. In contrast, TCS was not associated with other mutations at residue 290.
conclusionThere is an association between TCS and syndromic craniosynostosis, and it appears to be particularly high in individuals with the W290C mutation in FGFR2. Referral to a pediatric otolaryngologist and consideration of operative airway evaluation (i.e., bronchoscopy or rigid endoscopy) in all patients with syndromic craniosynostosis should be considered to evaluate for TCS. Results from genetic testing may help providers weigh the risks and benefits of early airway evaluation and intervention in children with higher-risk genotypes.Genet Med 19 1, 62-68.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.