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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Wenger, Tara L; Dahl, John; Bhoj, Elizabeth J; Rosen, Anna; McDonald-McGinn, Donna; Zackai, Elaine; Jacobs, Ian; Heike, Carrie L; Hing, Anne; Santani, Avni; Inglis, Andrew F; Sie, Kathleen C Y; Cunningham, Michael; Perkins, Jonathan.
Afiliación
  • Wenger TL; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Dahl J; Department of Surgery, Division of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Bhoj EJ; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Rosen A; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • McDonald-McGinn D; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zackai E; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Jacobs I; Department of Surgery, Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Heike CL; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Hing A; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Santani A; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Inglis AF; Department of Surgery, Division of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Sie KC; Department of Surgery, Division of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Cunningham M; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Perkins J; Department of Surgery, Division of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
Genet Med ; 19(1): 62-68, 2017 01.
Article en En | MEDLINE | ID: mdl-27228464
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.Genet Med 19 1, 62-68.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Nucleares / Craneosinostosis / Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos / Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos / Proteína 1 Relacionada con Twist Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Nucleares / Craneosinostosis / Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos / Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos / Proteína 1 Relacionada con Twist Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos