Very frequent syndrome with multiple etiologies resulting from mandibular aplasia. Characterized by association of cleft palate, glossoptosis, and micrognathia.
Robin Sequence; Pierre-Robin Sequence.
First described by French dental surgeon Pierre Robin in 1923 as an obstruction of the oral pharynx by the tongue.
This heterogenous birth defect has a prevalence between 1:8,000 and 1:85,000 live births. The male-to-female ratio is 1:1, except in the X-linked form.
The Pierre Robin Syndrome is qualified as a sequence—the possibility of its being mendelian cannot be excluded. There is a frequent association with ☞Stickler Syndrome, ☞Velocardiofacial Syndrome, ☞Fetal Alcohol Syndrome and ☞Treacher Collins Syndrome, ☞Hallermann-Streiff Syndrome, although micrognathia is an isolated event for most patients.
Hypoplasia of the mandibular area prior to 9 weeks in utero causes a posterior position of the tongue that prevents palatal shelves from closing on the midline.
Glossoptosis, micrognathia, and cleft soft palate must evocate diagnosis. Mandible grows during the first few months so that normal mandibular profile is common at the age of 4 to 6 years old.
In addition to the three classical signs that make the diagnosis, this syndrome can also include cardiovascular (cor pulmonale, vagal hyperactivity) and neuromuscular dysfunctions (brain stem dysfunction, central apnea). Facial abnormalities can provide obstructive apnea and respiratory distress in neonatal period. Prone position is often used to prevent the tongue from falling back. Nasopharyngeal airway can be useful and if necessary suture of the tongue to the lip or even tracheostomy. A mandibular distraction in the neonatal period is occasionally performed provided that obstruction of the airway is limited to the oropharynx. Feeding difficulties can be observed because of facial malformation and/or neurological swallowing problems necessitating gastrostomy feeding.
Pierre Robin Syndrome: Severe mandibular hypoplasia and microstomia in a 15-month-old boy with Pierre Robin Syndrome. Because of the severity of the findings associated with airway obstruction and the difficulties in airway management, the boy underwent tracheotomy.
Pierre Robin Syndrome: This three-dimensional reconstruction of the head CT scan of a patient with Pierre Robin Syndrome shows marked mandibular hypoplasia.
Precautions before anesthesia
Obtain full history of apnea (central and/or obstructive), respiratory complications, hospital stays, protracted intubation, tracheotomy, feeding, growth, and development. Evidence of facial signs will help to precisely evaluate the airway management possibilities. Evaluate for difficult tracheal intubation and lung ventilation. The most obstructive apnea is severe, ...