Tracheal Cartilaginous Sleeve Association With Syndromic Midface Hypoplasia

Stater, Brian J.; Oomen, Karin P. Q.; Modi, Vikash K.

doi:10.1001/jamaoto.2014.2790

Cited by 9 publications

(16 citation statements)

References 14 publications

(42 reference statements)

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“…10,21,36 Given the findings of the present study, it would be very interesting to revisit these knock-in mouse models and perform a more in-depth analysis of the airway anatomy to look for more subtle changes that may provide insight into the respiratory issues seen in patients with craniosynostosis syndromes caused by mutations in the FGFR2 genes, in addition to the other genes implicated in the present study (i.e., FGFR3 and TWIST1 ). Further exploration of the phenotype in mouse models of the condition as related to phenotypes in patients with the disorders may provide insight into the pathogenesis of the conditions.…”

Section: Discussionmentioning

confidence: 99%

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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Wenger

Dahl

Bhoj

et al. 2017

Genetics in Medicine

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Purpose Because 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. Methods Chart review of patients with syndromic craniosynostosis across two institutions. Results In 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. Conclusion There 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.

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Section: Discussionmentioning

confidence: 99%

“…Includes patients from Alli et al, 16 Hockstein et al, 3 Elloy et al, 26 Wenger et al, 10 Zackai et al, 15 Gonzales et al, 27 Cohen and Kreiborg, 2 Inglis et al, 7 Davis et al, 20 and Stater et al 21 …”

Section: Figurementioning

confidence: 99%

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Wenger

Dahl

Bhoj

et al. 2017

Genetics in Medicine

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“…Tracheobronchial anomalies, such as a tracheal cartilaginous sleeve, may be associated with a variety of craniofacial syndromes, including Crouzon, Pfeiffer, and Goldenhar syndrome . Tracheal cartilaginous sleeve is a congenital condition in which tracheal rings are replaced by a continuous cartilaginous segment . The rigidity of the trachea can alter the mechanical properties of the airway, interfering with airway airflow dynamics leading to retained secretions, and chronic pulmonary disease .…”

Section: Craniosynostosismentioning

confidence: 99%

“…Tracheal cartilaginous sleeve is a congenital condition in which tracheal rings are replaced by a continuous cartilaginous segment . The rigidity of the trachea can alter the mechanical properties of the airway, interfering with airway airflow dynamics leading to retained secretions, and chronic pulmonary disease . The majority (75%) of children with tracheal cartilaginous sleeve have required tracheostomy .…”

Section: Craniosynostosismentioning

confidence: 99%

“…The rigidity of the trachea can alter the mechanical properties of the airway, interfering with airway airflow dynamics leading to retained secretions, and chronic pulmonary disease . The majority (75%) of children with tracheal cartilaginous sleeve have required tracheostomy . Tracheal rigidity combined with a lack of normal anatomical landmarks can make tracheostomy challenging, and modification of tracheostomy techniques may be required.…”

Section: Craniosynostosismentioning

confidence: 99%

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Craniofacial surgery and specific airway problems

Garcia‐Marcinkiewicz

Stricker

2019

Pediatric Anesthesia

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Infants and children undergoing craniofacial surgery may present with a wide range of diseases and conditions posing an array of challenges to the anesthesiologist. Optimal perioperative care requires an understanding of these diseases and their impact on airway and anesthetic management. For those children with anomalies affecting airway anatomy, soft tissues of the head and neck, or skeletal mobility, advanced airway management techniques (ie, modalities other than direct laryngoscopy) may be required to secure the airway. Additionally, some craniofacial surgical procedures have direct implications on airway management, such as with Le Fort III midface advancement involving halo distractor application, where the distractor device precludes facemask ventilation. For all of these patients, the anesthetic and airway management plans must be tailored to the surgery being performed, the patient's specific conditions, and take into consideration all phases of perioperative care. In this review, we present some of the more commonly encountered craniofacial abnormalities affecting airway management.

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Genotype–Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice

et al. 2020

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Objectives: To characterize tracheal cartilage morphology in mouse models of fibroblast growth factor receptor (Fgfr2)related craniosynostosis syndromes. To establish relationships between specific Fgfr2 mutations and tracheal cartilaginous sleeve (TCS) phenotypes in these mouse models. Methods: Postnatal day 0 knock-in mouse lines with disease-specific genetic variations in the Fgfr2 gene (Fgfr2 C342Y/C342Y , Fgfr2 C342Y/+ , Fgfr2 +/Y394C , Fgfr2 +/S252W , and Fgfr2 +/P253R) as well as line-specific controls were utilized. Tracheal cartilage morphology as measured by gross analyses, microcomputed tomography (μCT), and histopathology were compared using Chi-squared and single-factor analysis of variance statistical tests. Results: A greater proportion of rings per trachea were abnormal in Fgfr2 C342Y/+ tracheas (63%) than Fgfr2 +/S252W (17%), Fgfr2 +/P253R (17%), Fgfr2 +/Y394C (12%), and controls (10%) (P < .001 for each vs. Fgfr2 C342Y/+). TCS segments were found only in Fgfr2 C342Y/C342Y (100%) and Fgfr2 C342Y/+ (72%) tracheas. Cricoid and first-tracheal ring fusion was noted in all Fgfr2 C342Y/C342Y and 94% of Fgfr2 C342Y/+ samples. The Fgfr2 C342Y/C342Y and Fgfr2 C342Y/+ groups were found to have greater areas and volumes of cartilage than other lines on gross analysis and μCT. Histologic analyses confirmed TCS among the Fgfr2 C342Y/C342Y and Fgfr2 C342Y/+ groups, without appreciable differences in cartilage morphology, cell size, or density; no histologic differences were observed among other Fgfr2 lines compared to controls. Conclusion: This study found TCS phenotypes only in the Fgfr2 C342Y mouse lines. These lines also had increased tracheal cartilage compared to other mutant lines and controls. These data support further study of the Fgfr2 mouse lines and the investigation of other Fgfr2 variants to better understand their role in tracheal development and TCS formation.

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Tracheal Cartilaginous Sleeve Association With Syndromic Midface Hypoplasia

Cited by 9 publications

References 14 publications

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Craniofacial surgery and specific airway problems

Genotype–Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice

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