Choanal Atresia and Craniosynostosis: Development and Disease

Kate M. Lesciotto, Yann Heuzé, Ethylin Wang Jabs, Joseph M. Bernstein, Joan T. Richtsmeier

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)156-168
Number of pages13
JournalPlastic and reconstructive surgery
Volume141
Issue number1
DOIs
StatePublished - Jan 1 2018

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Choanal Atresia
Craniosynostoses
Acrocephalosyndactylia
Nose
Comorbidity
Craniofacial Dysostosis
Nasopharynx
Textbooks
Uncertainty
Anatomy
Head
Pediatrics
Mutation

All Science Journal Classification (ASJC) codes

  • Surgery

Cite this

Lesciotto, Kate M. ; Heuzé, Yann ; Jabs, Ethylin Wang ; Bernstein, Joseph M. ; Richtsmeier, Joan T. / Choanal Atresia and Craniosynostosis : Development and Disease. In: Plastic and reconstructive surgery. 2018 ; Vol. 141, No. 1. pp. 156-168.
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Choanal Atresia and Craniosynostosis : Development and Disease. / Lesciotto, Kate M.; Heuzé, Yann; Jabs, Ethylin Wang; Bernstein, Joseph M.; Richtsmeier, Joan T.

In: Plastic and reconstructive surgery, Vol. 141, No. 1, 01.01.2018, p. 156-168.

Research output: Contribution to journalArticle

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