Pierre Robin Syndrome

Very frequent syndrome with multiple etiologies resulting from mandibular aplasia. Characterized by association of cleft palate, glossoptosis, and micrognathia.

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Robin Sequence; Pierre-Robin Sequence.

This heterogenous birth defect has a prevalence of approximately 1 per 8500 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. Association of Pierre Robin sequence with deletion 2q32.3-q33.2 has been demonstrated and mapped to a chromosome region previously shown to have a nonrandom association with cleft palate. An X-linked form and an association with trisomy 18 and other syndromes have also been evocated.

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 (brainstem 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. Feeding difficulties can be observed because of facial malformation and/or neurological swallowing problems.

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, the most tracheal intubation and ventilation by facial mask is difficult. Evaluate for tracheomalacia and stenosis after intubation or tracheotomy: chest radiograph. Evaluate for cardiac defects: echocardiography. Vagal hyperreflexia is common: vagolytic premedication is useful both to counteract it and to avoid the presence of excessive oral secretions. Previous surgical procedure and tracheal intubation provide precious information but cleft palate repair can provide new laryngoscopic difficulties. Obtain full personal medical history and search for existence of apnea. Evaluate other factors of respiratory distress: coexistence ...