Robin Sequence: From Diagnosis to Development of an Effective Management Plan

Abstract

The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence (RS). Although RS is a well-recognized clinical entity, there is wide variability in the diagnosis and care of children born with RS. Systematic evaluations of treatments and clinical outcomes for children with RS are lacking despite the advances in clinical care over the past 20 years. We explore the pathogenesis, developmental and genetic models, morphology, and syndromes and malformations associated with RS. Current classification systems for RS do not account for the heterogeneity among infants with RS, and they do not allow for prediction of the optimal management course for an individual child. Although upper airway obstruction for some infants with RS can be treated adequately with positioning, other children may require a tracheostomy. Care must be customized for each patient with RS, and health care providers must understand the anatomy and mechanism of airway obstruction to develop an individualized treatment plan to improve breathing and achieve optimal growth and development. In this article we provide a comprehensive overview of evaluation strategies and therapeutic options for children born with RS. We also propose a conceptual treatment protocol to guide the provider who is caring for a child with RS. Pediatrics 2011;127:936-948

Genetic Hearing Loss Associated with Craniofacial Abnormalities

“…Consequently, respiratory, feeding and swallowing problems are the major problems in these patients. (Evans et al, 2011) Pierre Robin sequence is usually a sporadic event with an estimated prevalence of about 1/10.000. In about 10% of patients a familial transmission has been described although the involved genes have not been identified.…”

Upper Airway Computed Tomography Measures and Receipt of Tracheotomy in Infants With Robin Sequence

“…5,6 The severity of upper airway obstruction varies, ranging from snoring to life-threatening airway compromise requiring tracheotomy. 3,7 Options to stabilize the airway in infants with RS include side and prone positioning, nasopharyngeal airway placement, and mandibular distraction. 5 In our institution, tracheotomy is pursued as a last-resort and definitive airway treatment for patients with the most severe upper airway obstruction.…”

Improvement of Feeding and Respiration with a Palatine Plate in a Case of Pierre-Robin Syndrome

“…Sıklıkla kullanılan meme başını taklit eden emzikler ise, damak yarığı nedeni ile tam bir uyum sağlayamadığından, yiyeceklerin nazofarenkse kaçışını engelleyemez. Yetersiz beslenen bebeğin gelişimi de geri kalmakta ve cerrahi müdahale için gerekli kiloya ulaşması problem olmaktadır (3)(4)(5). Bebeğin ameliyata alınabilir hale gelmesi, ancak yeterli bir beslenme ile sağlanabileceğinden damak yarığının protetik restorasyonu önemlidir.…”