Pharyngeal Hypoplasia in Treacher Collins Syndrome

Shprintzen, Robert J.; Croft, C. B.; Berkman, Milton D.; Rakoff, Saul J.

doi:10.1001/archotol.1979.00790150017005

Cited by 65 publications

(16 citation statements)

References 18 publications

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“…21 In that study, the authors found a typically anteroinferiorly displaced hyoid bone. In addition to the present results, these findings imply that OSAS has a complex multiple level origin in TCS.…”

Section: Discussionmentioning

confidence: 87%

Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause

Plomp

Bredero-Boelhouwer

Joosten

et al. 2012

International Journal of Oral and Maxillofacial Surgery

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Section: Discussionmentioning

confidence: 87%

Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause

Plomp

Bredero-Boelhouwer

Joosten

et al. 2012

International Journal of Oral and Maxillofacial Surgery

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“…23,25 Coronal pharyngeal narrowing in Treacher Collins and Nager syndromes can further compound the pharyngeal constriction produced by the posteriorly displaced base of tongue due to mandibular micrognathia. 26 Therefore, diminishing such constriction by mandibular distraction should reduce the pressure differential and improve airflow.…”

Section: Discussionmentioning

confidence: 99%

Distraction Osteogenesis for Tracheostomy Dependent Children With Severe Micrognathia

Rachmiel¹,

Srouji²,

Emodi³

et al. 2012

Journal of Craniofacial Surgery

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Obstructive sleep apnea (OSA) in pediatric populations is often associated with congenital craniofacial malformations resulting in decreased pharyngeal airway, which in severe cases leads to tracheostomy dependence. The purpose of this study was to use distraction osteogenesis to improve the airway and decannulate the tracheostomy. This study involved 11 OSA tracheostomy-dependent patients (age range, 4 months to 6 years) who underwent bilateral distraction in the mandibular body using extraoral distraction devices. Following a latency period of 4 days, gradual distraction at a rate of 1 mm/d was performed followed by a consolidation period of 10 weeks. Three-dimensional computed tomography reconstruction of the face and neck before and after the mandibular lengthening aided in quantitative volumetric evaluation of mandibular volume and airway volume. The results demonstrated mandibular elongation of a mean of 30 mm on each side, an increase in mandibular volume by an average of 29.19%, and increase in pharyngeal airway by an average of 70.53%. Two to 3 months following the last lengthening, all 11 patients were decannulated with improvement of signs and symptoms of OSA and elimination of oxygen requirement. Mean follow-up was 2.0 years. The oxygen saturation level rose to more than 95%, and the apnea index respiratory disturbance index was less than 2 episodes per hour for all patients. Bilateral mandibular distraction is a useful method in younger children to decannulate permanent tracheostomy expanding the hypoplastic mandible and concomitantly advance the base of tongue and hyoid bone increasing the pharyngeal airway.

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“…Le palais est étroit, de même que les fosses nasales. Indépendamment de l'atrésie choanale parfois décrite, l'hypoplasie pharyngée, l'étroitesse constante des voies aériennes par hypoplasie maxillaire, le recul maxillo-mandibulaire avec classe II d'Angle, peuvent être à l'origine de difficultés ventilatoires avec obstruction linguale et pourraient expliquer les cas de mort néonatale [48]. Le risque d'apnées obstructives du sommeil est important et a été évalué jusqu'à 25 % des cas [23,47].…”

Section: Morphologie Facialeunclassified

Embryologie de la face et dysplasies otomandibulaires

Charrier¹,

Creuzet²

2007

Orthod Fr

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RÉSUMÉ -Les dysplasies otomandibulaires regroupent l'ensemble des malformations congénitales qui affectent l'oreille et les mâchoires. La compréhension préalable du développement normal de l'embryon facilite l'approche clinique et thérapeutique des pathologies malformatives. Le développement des structures cranio-faciales met en jeu des mécanismes dont nous commençons à appréhender la complexité. Dans cette revue de la littérature, l'embryologie de la région otomandibulaire est rappelée. À la lumière des travaux récents de génétique et d'embryologie expérimentale, une approche clinique de la dysostose mandibulo-faciale est envisagée et une mise à jour des hypothèses pathogéniques est proposée.MOTS CLÉS -Dysostose mandibulo-faciale / Dysplasie otomandibulaire / Face / Embryologie / Treacher-Collins ABSTRACT -Otomandibular dysplasias encompass a broad range of congenital malformations (hemifacial microsomia, mandibulofacial dysostosis) affecting both jaw and ear apparatus. Deciphering the mechanisms of normal embryonic development is a prerequisite for optimal clinical management of those malformations. The development of craniofacial structures is a multi-step process, which involves many developmental events ranging from the migration of neural crest cells from the neural primordium, the molecular interactions that coordinate outgrowth and patterning of the facial primordia, to the fine tuning of the skeletal components. Our knowledge concerning craniofacial development has been gain through experiments carried out in animal developmental models; cell tracing strategies and functional analyses have contributed to significantly increment our understanding of human otomandibular dysplasias. In this review, we discuss classical and recent aspects of otomandibular development. Current proposals for pathogenesis are reviewed and a clinical approach for mandibulofacial dysostosis is proposed.

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Pharyngeal Hypoplasia in Treacher Collins Syndrome

Cited by 65 publications

References 18 publications

Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause

Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause

Distraction Osteogenesis for Tracheostomy Dependent Children With Severe Micrognathia

Embryologie de la face et dysplasies otomandibulaires

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