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Special Communication
September 2016

Best Practices for the Diagnosis and Evaluation of Infants With Robin SequenceA Clinical Consensus Report

Author Affiliations
  • 1Department of Pediatric Plastic Surgery, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands
  • 2Seattle Children’s Craniofacial Center, Department of Pediatrics, University of Washington, Seattle
  • 3Department of Neonatology, University Hospital, Tübingen, Germany
  • 4Faculty of Dentistry, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada
  • 5Division of Plastic and Maxillofacial Surgery, Necker Children’s Hospital, Paris, France
  • 6Department of Plastic and Reconstructive Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway
  • 7Cleft Lip and Palate Service, University of Edinburgh, Royal Hospital for Sick Children, Edinburgh, Scotland
  • 8Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
  • 9Division of Plastic Surgery, Academic Medical Center, Amsterdam, the Netherlands
  • 10Cleft and Craniofacial Center, Department of Plastic Surgery, Sri Ramachandra University, Chennai, India
  • 11Department of Pediatric Intensive Care, Erasmus Medical Center, Sophia Children’s Hospital, Rotterdam, the Netherlands
  • 12Division of Ear, Nose and Throat Surgery, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands
  • 13Department of Plastic and Craniomaxillofacial Surgery, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul Federal University, Porto Alegre, Brazil
  • 14Department of Clinical Genetics, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands
  • 15Department of Maxillofacial Surgery, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands
  • 16Department of Orthodontics, Dental Faculty, University of Oslo, Oslo, Norway
  • 17Oslo Cleft Team, Department of Plastic Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway
  • 18Division of Maxillofacial Surgery, Osaka University Cleft Palate Center, Osaka, Japan
  • 19Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Australia
  • 20Department of Plastic, Reconstructive and Hand Surgery, Vrije Universiteit University Medical Center, Amsterdam, the Netherlands
  • 21Dundee University Dental School, Dundee, Scotland
  • 22West Midlands Cleft Service, Birmingham Children’s Hospital, Birmingham, England
  • 23Department of General Pediatrics, National Referral Center for Pierre Robin Sequence, Necker Hospital, Paris Descartes University, Paris, France
  • 24Division of Otolaryngology, Department of Surgery, Izaak Walton Killam Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada
JAMA Pediatr. 2016;170(9):894-902. doi:10.1001/jamapediatrics.2016.0796

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.