Corstiaan C Breugem1, Kelly N Evans2, Christian F Poets3, Sunjay Suri4, Arnaud Picard5, Charles Filip6, Emma C Paes1, Felicity V Mehendale7, Howard M Saal8, Hanneke Basart9, Jyotsna Murthy10, Koen F M Joosten11, Lucienne Speleman12, Marcus V M Collares13, Marie-José H van den Boogaard14, Marvick Muradin15, Maud Els-Marie Andersson16, Mikihiko Kogo17, Peter G Farlie18, Peter Don Griot19, Peter A Mossey20, Rona Slator21, Veronique Abadie22, Paul Hong23. 1. Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands. 2. Seattle Children's Craniofacial Center, Department of Pediatrics, University of Washington, Seattle. 3. Department of Neonatology, University Hospital, Tübingen, Germany. 4. Faculty of Dentistry, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada. 5. Division of Plastic and Maxillofacial Surgery, Necker Children's Hospital, Paris, France. 6. Department of Plastic and Reconstructive Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway. 7. Cleft Lip and Palate Service, University of Edinburgh, Royal Hospital for Sick Children, Edinburgh, Scotland. 8. Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 9. Division of Plastic Surgery, Academic Medical Center, Amsterdam, the Netherlands. 10. Cleft and Craniofacial Center, Department of Plastic Surgery, Sri Ramachandra University, Chennai, India. 11. Department of Pediatric Intensive Care, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands. 12. Division of Ear, Nose and Throat Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands. 13. Department of Plastic and Craniomaxillofacial Surgery, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul Federal University, Porto Alegre, Brazil. 14. Department of Clinical Genetics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands. 15. Department of Maxillofacial Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands. 16. Department of Orthodontics, Dental Faculty, University of Oslo, Oslo, Norway17Oslo Cleft Team, Department of Plastic Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway. 17. Division of Maxillofacial Surgery, Osaka University Cleft Palate Center, Osaka, Japan. 18. Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia. 19. Department of Plastic, Reconstructive and Hand Surgery, Vrije Universiteit University Medical Center, Amsterdam, the Netherlands. 20. Dundee University Dental School, Dundee, Scotland. 21. West Midlands Cleft Service, Birmingham Children's Hospital, Birmingham, England. 22. Department of General Pediatrics, National Referral Center for Pierre Robin Sequence, Necker Hospital, Paris Descartes University, Paris, France. 23. Division of Otolaryngology, Department of Surgery, Izaak Walton Killam Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Abstract
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.
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.
Authors: Austin S Lam; Michael D Bindschadler; Kelly N Evans; Seth D Friedman; Matthew S Blessing; Randall Bly; Michael L Cunningham; Mark A Egbert; Russell E Ettinger; Emily R Gallagher; Richard A Hopper; Kaalan Johnson; Jonathan A Perkins; Erin K Romberg; Kathleen C Y Sie; Srinivas M Susarla; Carlton J Zdanski; Xing Wang; Jeffrey P Otjen; Francisco A Perez; John P Dahl Journal: Otolaryngol Head Neck Surg Date: 2021-07-13 Impact factor: 3.497
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Authors: Christopher M Runyan; Armando Uribe-Rivera; Shahryar Tork; Tasneem A Shikary; Zarmina Ehsan; K Nicole Weaver; Md Monir Hossain; Christopher B Gordon; Brian S Pan Journal: Plast Reconstr Surg Glob Open Date: 2018-05-10