TY - JOUR
T1 - Choanal Atresia and Craniosynostosis
T2 - Development and Disease
AU - Lesciotto, Kate M.
AU - Heuzé, Yann
AU - Jabs, Ethylin Wang
AU - Bernstein, Joseph M.
AU - Richtsmeier, Joan T.
N1 - Funding Information:
Research presented here was funded in part by the National Institutes of Health (National Institute of Dental and Craniofacial Research, National Institute of Child Health and Human Development, and American Recovery and Reinvestment Act) (R01-DE018500, R01-DE018500-S1, R01-DE022988, and P01HD078233) and the National Science Foundation (BCS-0725227). The authors thank members of the Bernstein, Jabs, and Richtsmeier laboratories for ongoing discussions about the development, anatomy, and dysmorphology of the choanae that informed this study, including Susan Motch Perrine, Kevin Flaherty, Kazuhiko Kawasaki, Mizuho Kawasaki, Greg Holmes, James Azzi, and Sameep Kadakia. Use of the computed tomographic images was approved by the institutional review boards of the Pennsylvania State University and the participating institutions, and the images were acquired in accordance with institutional guidelines. All collected images were anonymized and no information other than sex, age at the time of the computed tomographic examination, and causative mutation were available.
Funding Information:
Research presented here was funded in part by the National Institutes of Health (National Institute of Dental and Craniofacial Research, National Institute of Child Health and Human Development, and American Recovery and Reinvestment Act) (R01-DE018500, R01-DE018500-S1, R01-DE022988, and P01HD078233) and the National Science Foundation (BCS-0725227). The authors thank members of the Bernstein, Jabs, and Richtsmeier laboratories for ongoing discussions about the development, anatomy, and dysmor-phology of the choanae that informed this study, including Susan Motch Perrine, Kevin Flaherty, Kazuhiko Kawasaki, Mizuho Kawasaki, Greg Holmes, James Azzi, and Sameep Kadakia. Use of the computed tomographic images was approved by the institutional review boards of the Pennsylvania State University and the participating institutions, and the images were acquired in accordance with institutional guidelines. All collected images were anonymized and no information other than sex, age at the time of the computed tomographic examination, and causative mutation were available.
Publisher Copyright:
Copyright © 2017 by the American Society of Plastic Surgeons.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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+/C342Y 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.
AB - 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+/C342Y 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.
UR - http://www.scopus.com/inward/record.url?scp=85039704362&partnerID=8YFLogxK
U2 - 10.1097/PRS.0000000000003928
DO - 10.1097/PRS.0000000000003928
M3 - Article
C2 - 29280877
AN - SCOPUS:85039704362
SN - 0032-1052
VL - 141
SP - 156
EP - 168
JO - Plastic and Reconstructive Surgery
JF - Plastic and Reconstructive Surgery
IS - 1
ER -