Best practices for the diagnosis and evaluation of infants with robin sequence: a clinical consensus report

Corstiaan C. Breugem, Kelly N. Evans (Lead / Corresponding author), Christian F Poets, Sunjay Suri, Arnaud Picard, Charles Filip, Emma C. Paes, Felicity V. Mehendale, Howard M. Saal, Hanneke Basart, Jyotsna Murthy, Koen F. M. Joosten, Lucienne Speleman, Marcus V. M. Collares, Marie-José H. van den Boogaard, Marvick Muradin, Maud Els-Marie Andersson, Mikihiko Kogo, Peter G. Farlie, Peter Don GriotPeter A. Mossey, Rona Slator, Veronique Abadie, Paul Hong

Research output: Contribution to journalArticlepeer-review

129 Citations (Scopus)
603 Downloads (Pure)


Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation.

Objective: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management.

Evidence Review: Based on a literature review and expert opinion, a clinical consensus report was generated.

Findings: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments.

Conclusions and Relevance: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.

Original languageEnglish
Pages (from-to)894-902
Number of pages9
JournalJAMA Pediatrics
Issue number9
Early online date18 Jul 2016
Publication statusPublished - 18 Jul 2016


Dive into the research topics of 'Best practices for the diagnosis and evaluation of infants with robin sequence: a clinical consensus report'. Together they form a unique fingerprint.

Cite this