Case 18 Pierre Robin Sequence
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