8.8 Pierre Robin′s Sequence
Key Features
Pierre Robin′s sequence requires the presence of micrognathia, glossoptosis, and usually a cleft palate (frequently U-shaped).
Infants present with airway obstruction, because the tongue falls into the pharyngeal airway, and feeding difficulties.
Hearing loss is frequent as a result of otitis media (OM) with effusion (OME; 90%), middle ear anomalies (60%), and inner ear anomalies (40%).
Described first in 1891 by Lannelongue and Ménard, then further by Pierre Robin in 1923, the sequence requires the presence of micrognathia and glossoptosis. Most (90%) also have a cleft palate. Neonates have feeding difficulties. They have upper airway obstruction and are usually difficult to intubate. These children have a high incidence (up to 80%) of other systemic anomalies.
Epidemiology
Incidence is 1 in 8,500 births. Up to 80% are syndromic, most commonly Stickler′s syndrome (autosomal dominant; 1 per 10,000 incidence in the United States; flat midface, cleft palate, retinal detachment, cataracts, arthropathy) and velocardiofacial syndrome (autosomal dominant; cleft palate, cardiac anomalies, almond-shaped palpebral fissures, tubular nose, small mouth, learning disabilities). Some cases have autosomal recessive or X-linked inheritance.
Clinical
Signs
Micrognathia, glossoptosis, cleft palate
Airway obstruction with desaturations
Pinna abnormalities, OME may be associated
Symptoms
Airway obstruction with stertor, cyanosis, respiratory failure
Prone position may improve airway obstruction in mild cases.
Failure to thrive
Differential Diagnosis
Stickler′s syndrome
Velocardiofacial syndrome
Fetal alcohol syndrome
Treacher Collins′s syndrome
Nager′s syndrome
Beckwith-Wiedemann′s syndrome
All of these syndromes are associated with Pierre Robin′s sequence.
Evaluation
The most important matter is to first ensure an adequate airway and feeding. Then one should determine whether there is an associated syndrome. Syndromic patients will generally require more involved interventions.
Physical Exam
A complete head and neck exam will reveal the signs of the sequence. A maxillary–mandibular discrepancy can be measured by placing the infant upright, passively closing the jaw, placing the wooden end of a cotton applicator on the anterior surface of the mandibular alveolar ridge in the midline, then marking where the anterior surface of the maxillary alveolar ridge falls. This measure can be used to monitor growth and surgical outcome.
Pinnae and tympanic membranes should be evaluated. A flexible laryngoscopy is required to rule out concomitant laryngomalacia.
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