The management of upper airway obstruction in Pierre Robin Sequence. 2023

Katrina Zaballa, and Jagdev Singh, and Karen Waters
Department of Sleep Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of General Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Pierre Robin Sequence (PRS) is defined by a constellation of characteristics including micrognathia, glossoptosis and airway obstruction. PRS can occur in isolation or can be associated with syndromes and another anomalies. Airway obstruction and feeding difficulties are the major presenting issues, and the severity of the condition ranges from mild, with minimal to no symptoms, to severe, with overt obstruction resulting in apnoeas, severe respiratory distress and cyanosis. The presence of airway obstruction can result in obstructive sleep apnoea and abnormalities in gas exchange, as well as exacerbation of already present feeding difficulties and failure to thrive, secondary to mismatch of caloric intake to energy usage associated with increased effort of breathing. Management of airway obstruction for infants with PRS varies between centres. This paper explores the surgical and non-surgical management options available, their effectiveness and pitfalls in children with PRS. Despite the pros and cons of each management option, it is evident that resource availability and multidisciplinary clinical support are key factors to successful management.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D010855 Pierre Robin Syndrome Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004417 Dyspnea Difficult or labored breathing. Orthopnea,Platypnea,Recumbent Dyspnea,Rest Dyspnea,Trepopnea,Breathlessness,Shortness of Breath,Breath Shortness,Dyspnea, Recumbent,Dyspnea, Rest,Dyspneas, Rest
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000402 Airway Obstruction Any hindrance to the passage of air into and out of the lungs. Choking,Airway Obstructions,Obstruction, Airway,Obstructions, Airway
D016896 Treatment Outcome Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series. Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes
D019857 Osteogenesis, Distraction Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery. Callotasis,Distraction Osteogenesis,Callotases,Distraction Osteogeneses,Osteogeneses, Distraction
D020181 Sleep Apnea, Obstructive A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395) Obstructive Sleep Apnea,Upper Airway Resistance Sleep Apnea Syndrome,Apnea, Obstructive Sleep,OSAHS,Obstructive Sleep Apnea Syndrome,Sleep Apnea Hypopnea Syndrome,Sleep Apnea Syndrome, Obstructive,Syndrome, Obstructive Sleep Apnea,Syndrome, Sleep Apnea, Obstructive,Syndrome, Upper Airway Resistance, Sleep Apnea,Apneas, Obstructive Sleep,Obstructive Sleep Apneas,Sleep Apneas, Obstructive

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