title: Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.
abstract: 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.
  
  
  
  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.
  
  
  
  Based on a literature review and expert opinion, a clinical consensus report was generated.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
authors.forename: Corstiaan C
authors.initials: CC
authors.lastname: Breugem
authors.affiliation: Seattle Children's Craniofacial Center, Department of Pediatrics, University of Washington, Seattle.
authors.forename: Kelly N
authors.initials: KN
authors.lastname: Evans
authors.affiliation: Department of Neonatology, University Hospital, Tübingen, Germany.
authors.forename: Christian F
authors.initials: CF
authors.lastname: Poets
authors.affiliation: Faculty of Dentistry, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Sunjay
authors.initials: S
authors.lastname: Suri
authors.affiliation: Division of Plastic and Maxillofacial Surgery, Necker Children's Hospital, Paris, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Picard
authors.affiliation: Department of Plastic and Reconstructive Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
authors.forename: Charles
authors.initials: C
authors.lastname: Filip
authors.affiliation: Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Paes
authors.affiliation: Cleft Lip and Palate Service, University of Edinburgh, Royal Hospital for Sick Children, Edinburgh, Scotland.
authors.forename: Felicity V
authors.initials: FV
authors.lastname: Mehendale
authors.affiliation: Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: Howard M
authors.initials: HM
authors.lastname: Saal
authors.affiliation: Division of Plastic Surgery, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: Hanneke
authors.initials: H
authors.lastname: Basart
authors.affiliation: Cleft and Craniofacial Center, Department of Plastic Surgery, Sri Ramachandra University, Chennai, India.
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Murthy
authors.affiliation: Department of Pediatric Intensive Care, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands.
authors.forename: Koen F M
authors.initials: KF
authors.lastname: Joosten
authors.affiliation: Division of Ear, Nose and Throat Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
authors.forename: Lucienne
authors.initials: L
authors.lastname: Speleman
authors.affiliation: Department of Plastic and Craniomaxillofacial Surgery, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul Federal University, Porto Alegre, Brazil.
authors.forename: Marcus V M
authors.initials: MV
authors.lastname: Collares
authors.affiliation: Department of Clinical Genetics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
authors.forename: Marie-José H
authors.initials: MJ
authors.lastname: van den Boogaard
authors.affiliation: Department of Maxillofacial Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
authors.forename: Marvick
authors.initials: M
authors.lastname: Muradin
authors.affiliation: Department of Orthodontics, Dental Faculty, University of Oslo, Oslo, Norway17Oslo Cleft Team, Department of Plastic Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
authors.forename: Maud Els-Marie
authors.initials: ME
authors.lastname: Andersson
authors.affiliation: Division of Maxillofacial Surgery, Osaka University Cleft Palate Center, Osaka, Japan.
authors.forename: Mikihiko
authors.initials: M
authors.lastname: Kogo
authors.affiliation: Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia.
authors.forename: Peter G
authors.initials: PG
authors.lastname: Farlie
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Vrije Universiteit University Medical Center, Amsterdam, the Netherlands.
authors.forename: Peter
authors.initials: P
authors.lastname: Don Griot
authors.affiliation: Dundee University Dental School, Dundee, Scotland.
authors.forename: Peter A
authors.initials: PA
authors.lastname: Mossey
authors.affiliation: West Midlands Cleft Service, Birmingham Children's Hospital, Birmingham, England.
authors.forename: Rona
authors.initials: R
authors.lastname: Slator
authors.affiliation: Department of General Pediatrics, National Referral Center for Pierre Robin Sequence, Necker Hospital, Paris Descartes University, Paris, France.
authors.forename: Veronique
authors.initials: V
authors.lastname: Abadie
authors.affiliation: Division of Otolaryngology, Department of Surgery, Izaak Walton Killam Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Hong
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010855:Pierre Robin Syndrome / Q000175:diagnosis*; D017410:Practice Guidelines as Topic