Management of the Airway in Apert Syndrome

Xie, Carol; De, Sujata; Selby, Andrew

doi:10.1097/scs.0000000000002333

Cited by 19 publications

(16 citation statements)

References 33 publications

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“…Moreover, studies of chick craniofacial development have demonstrated the disruption of Fgf8 expression that occurs under conditions of reduced retinoid signaling (44,45). Furthermore, syndromes such as Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevenson syndrome and Antley-Bixler syndrome (46–48) exhibit CA in association with other craniofacial anomalies, and each has been linked to exaggerated FGF signaling. Finally, a recent study revealed that elevated Fgf8 expression in cranial neural crest cells results in perturbation of nasal cavity invagination (49).…”

Section: Discussionmentioning

confidence: 99%

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia

Kurosaka

Wang

Sandell

et al. 2017

Human Molecular Genetics

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Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked. CA occurs in approximately 1/5000 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes. However, the detailed cellular and molecular mechanisms underpinning the etiology and pathogenesis of CA remain elusive. In this study, we discovered that mice with mutations in retinol dehydrogenase 10 (Rdh10), which perturbs Vitamin A metabolism and retinoid signaling, exhibit fully penetrant CA. Interestingly, we demonstrate Rdh10 is specifically required in non-neural crest cells prior to E10.5 for proper choanae formation, and that in the absence of Rdh10, Fgf8 is ectopically expressed in the nasal fin. Furthermore, we found that defects in choanae development are associated with decreased cell proliferation and increased cell death in the epithelium of the developing nasal cavity, which retards invagination of the nasal cavity, and thus appears to contribute to the pathogenesis of CA. Taken together, our findings demonstrate that RDH10 is essential during the early stages of facial morphogenesis for the formation of a functional nasal airway, and furthermore establish Rdh10 mutant mice as an important model system to study CA.

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Section: Discussionmentioning

confidence: 99%

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia

Kurosaka

Wang

Sandell

et al. 2017

Human Molecular Genetics

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“…Apert syndrome may be a condition in which iSARPE for nasal obstruction will be useful, with many of these patients presenting with choanal, pyriform, and midnasal stenosis. A previous Apert series showed that 60% of the patients required nasal airway interventions, many requiring multiple revision surgeries.…”

Section: Discussionmentioning

confidence: 99%

“…Failed surgical management of pyriform stenosis and choanal atresia may be due to scarring or unrecognized concomitant midnasal stenosis. Additionally, craniofacial disorders such as Apert and Crouzon syndromes can be associated with nasal stenosis without pyriform aperture or choanal stenosis …”

Section: Introductionmentioning

confidence: 99%

“…Additionally, craniofacial disorders such as Apert and Crouzon syndromes can be associated with nasal stenosis without pyriform aperture or choanal stenosis. 1,2 Surgically assisted rapid palatal advancement (SARPE) is a technique of palatal distraction that has been used to provide space for crowded maxillary dentition and in maxillary hypoplasia. 3 More recent usage includes adult obstructive sleep apnea (OSA) patients.…”

Section: Introductionmentioning

confidence: 99%

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Management of midnasal stenosis with infant surgically assisted rapid palatal expansion (iSARPE)

2018

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“…There is a spectrum of syndromes which are caused by mutations in Fibroblast Growth Factor Receptors (FGFRs) ( Table 2). These syndromes include Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, Beare-Stevenson Cutis Gyrata syndrome, and Antley-Bixler syndrome (Burrow et al, 2009;Stieve et al, 2009;Upmeyer, Bothwell, & Tobias, 2005;Xie, De, & Selby, 2016). These syndromes frequently exhibit craniosynostosis, which is defined as the premature fusion of cranial sutures as a result of accelerated bone formation (Johnson & Wilkie, 2011).…”

Section: (Diseases Associated With Mutations In Fgfrs)mentioning

confidence: 99%

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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Management of the Airway in Apert Syndrome

Cited by 19 publications

References 33 publications

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia

Management of midnasal stenosis with infant surgically assisted rapid palatal expansion (iSARPE)

Choanal atresia and stenosis: Development and diseases of the nasal cavity

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