Case 18 Pierre Robin Sequence



Rajiv J. Iyengar, Karl Bruckman, and Derek M. Steinbacher

Case 18 Pierre Robin Sequence

Case 18 A newborn infant is taken to the neonatal intensive-care unit (ICU) due to concerns over airway distress soon after delivery.


18.1 Description




  • Infant identified to have Robin sequence




    • Classic triad of micrognathia, glossoptosis, and airway obstruction with or without cleft palate



  • Mandible appears hypoplastic



  • Apparently intubated with nasal feeding tube in place



18.2 Work-Up




  • Multidisciplinary team approach of cleft/craniofacial specialists to address mandibular hypoplasia, feeding difficulties, and airway obstruction



  • Genetic evaluation may be warranted




    • Stickler syndrome, chromosome 22q11.2 deletion (velocardiofacial syndrome), hemifacial microsomia, Treacher Collins syndrome, Nager syndrome, CHARGE syndrome



  • Airway evaluation is most important




    • Obstructive sleep apnea assessment with polysomnography (sleep study)



    • Bronchoscopy and nasoendoscopy to identify site(s) of airway obstruction




      • Can provide crucial information regarding subglottic pathology including laryngomalacia, tracheomalacia, and subglottic webs



      • May be more than 1 level of obstruction



    • Magnetic resonance imaging (MRI) and computed tomography (CT) scans can be used for three-dimensional reconstructions to evaluate airway patency



18.3 Patient Counseling




  • Stratification of severity guides treatment strategies




    • Above work-up should identify additional obstructive pathology



    • Attempt prone positioning for mild cases (70% of cases)



    • Severe airway obstruction necessitating tracheostomy placement (10%) should undergo operative intervention



    • Management of intermediate severity (20%) is controversial




      • Nasopharyngeal airway



      • Tongue–lip adhesion



      • Distraction osteogenesis



  • Characterizing mandibular hypoplasia




    • Smaller volume



    • Shorter ramus



    • Obtuse symphyseal angle

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Jul 17, 2021 | Posted by in General Surgery | Comments Off on Case 18 Pierre Robin Sequence

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