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Special Communication |

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

Corstiaan C. Breugem, MD, PhD1; Kelly N. Evans, MD2; Christian F. Poets, MD, PhD3; Sunjay Suri, MDS, MOrthRCS4; Arnaud Picard, MD, PhD5; Charles Filip, MD, PhD6; Emma C. Paes, MD, PhD1; Felicity V. Mehendale, MS, FRCS(Plast)7; Howard M. Saal, MD8; Hanneke Basart, MD, PhD9; Jyotsna Murthy, MD10; Koen F. M. Joosten, MD, PhD11; Lucienne Speleman, MD12; Marcus V. M. Collares, MD, PhD13; Marie-José H. van den Boogaard, MD, PhD14; Marvick Muradin, MD, DMD, PhD15; Maud Els-Marie Andersson, PhD16,17; Mikihiko Kogo, DDS, PhD18; Peter G. Farlie, PhD19; Peter Don Griot, MD, PhD20; Peter A. Mossey, BDS, PhD21; Rona Slator, DPhil, FRCS, FRCS(Plast)22; Veronique Abadie, MD, PhD23; Paul Hong, MD24
[+] 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.
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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.

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Figure.
The Jaw Index

A, Using a measurement tape, the distance from tragus (t) to tragus is measured through subnasal (sn) and through pogonion (pg), producing upper arch distance (U) and lower arch distance (L) measurements, respectively. B, With a micrometer depth gauge (or tongue depressor), the anteroposterior distance between the alveolar processes of the upper and lower jaw (overbite) is measured. The Jaw Index is calculated using the following formula: Overbite × (Upper Arch / Lower Arch). Published with permission from Ingrid Jansen (University Medical Center Utrecht, Utrecht, the Netherlands).

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