Very frequent syndrome with multiple etiologies
resulting from mandibular aplasia. Characterized by association of cleft
palate, glossoptosis, and micrognathia.
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
Pierre Robin syndrome
This three-dimensional reconstruction of the head CT scan of a patient
with Pierre Robin syndrome shows marked mandibular hypoplasia.
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 ...