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 of central apnea, tonsil hypertrophy, cardiopathy. Evaluate for present infection in the orolaryngotracheal area and within the lungs from recurrent pulmonary aspiration. Evaluate for esophageal reflux.

The complication rate is high because of difficult airway management. Direct laryngoscopy and tracheal intubation can be extremely difficult especially in the very young patient. However, the difficulty decreases with age. Intravenous access prior to anesthesia induction has to be considered and difficult airway management procedures have to be clearly planned. Different techniques have been successfully used in such patients: fiberoptic intubation, laryngeal mask airway, Bullard laryngoscope, retrograde tracheal intubation, digitally assisted intubation, and blind nasal intubation in prone position with hyperextension of the neck. In all cases, well-controlled and light anesthesia induction allowing preservation of spontaneous ventilation must be used. Halothane or sevoflurane can be used for this purpose. The possibility of manually assisted ventilation using a face mask has to be verified prior to any attempt of direct laryngoscopy. Close postoperative observation is necessary to detect any apnea. Prone position can be used for patients with swallowing problems, or in a case of postoperative pharyngeal bleeding, to avoid pulmonary inhalation. Muscle relaxants are contraindicated until confirmation of maintenance of face-mask ventilation and/or direct laryngoscopy and tracheal intubation can be performed. The major concern is difficult or impossible ventilation by face mask. Spontaneous ventilation must be preserved during laryngoscopy and tracheal intubation attempts. Possibility for reintubation must be considered before tracheal extubation. Postoperative stay in a pediatric intensive care unit may be required in patients with considerable airway obstruction.

Whatever the anesthetic medication used, muscle relaxation increases during induction of anesthesia and may affect the maintenance of the airway. Benzodiazepines have to be used with extreme caution. Muscles relaxants should be avoided until tracheal intubation is performed.

Multiple related syndromes have been described.

Cerebrocostomandibular Syndrome: An extremely rare disorder characterized by micrognathia, cleft palate, glossoptosis, and rib dysplasia leading to pulmonary insufficiency in early infancy. Other features include mental retardation and congenital brain anomalies. Autosomal dominant inheritance reported but most cases known as sporadic expression. Diagnosis established radiologically by the presence of gaps in the posterior rib shafts as a result of replacement of normal rib by cartilaginous or fibrous tissue. Combine the sequence with mental retardation, short size, ventricular septal defect, osseous abnormalities (hip, foot, clavicle, vertebrae) and severe tracheal and thoracic abnormalities (gaps in ribs, bell-shaped thorax) that lead often to respiratory insufficiency.

Catel-Manzke Syndrome: An X-linked recessive disorder characterized by micrognathia, high-arched palate, cleft palate and lip, Robin anomaly, glossoptosis, malformed ears, and short neck. Other features include cardiovascular anomalies (ventricular septal defect, aortic coarctation, dextrocardia), pectus carinatum or excavatum, seizures, joint laxity and dislocations, hyperphalangy of index finger, fifth finger clinodactyly, single transverse palmar crease, and talipes equinovarus.

Stickler Syndrome: Hereditary (autosomal dominant), arthroophthalmopathy with a neonatal form that combined Pierre Robin syndrome with fetal chondrodysplasia, flat facies with marfanoid appearance, joint hyperlaxity, frequent mitral valve prolapse, and severe ophthalmic abnormalities.

Toriello-Carey Syndrome: Multiple congenital anomalies consisting of agenesis of corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, macrocephaly, micrognathia, laryngeal and sublaryngeal abnormalities, heart defect (pulmonic stenosis and atrial septal defect), muscular hypotonia, occasional Hirschsprung disease, and moderate to severe developmental delay.

Arnold Stickler Bourne Syndrome (Corneal Crystals Myopathy Nephropathy Syndrome): Arthroophthalmopathy that requires caution with muscle relaxants and the avoiding of succinylcholine. Characterized by corneal crystals, retinal pigment epithelial mottling, oropharyngeal and hand weakness and/or atrophy, proteinuria, and hypertension.

Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot: Recessive X-linked transmission. Similar presentation than Pierre Robin syndrome but associated with congenital heart defect, club foot, and cleft palate.

Chitayat Meunier Hodgkinson Syndrome: Pierre Robin sequence with faciodigital anomaly: cleft palate, micro/ retrognathia, microdontia, glossoptosis, broad nose, and high forehead with frontal bossing and long philtrum. Flat cheekbones and supraorbital ridges. Exophthalmos. Limbs. Clinodactyly of the fifth finger. Triphalangeal thumb. Syndactyly of the toes. Terminal hypoplasia of the fingers. Hypoplastic nails and sparse scalp hair. Anesthesia has not been described in this condition; however, the features suggest that face-mask ventilation, direct laryngoscopy, and tracheal intubation might be challenging. Particular attention should be paid to eye care in the presence of exophthalmos.

Martsolf Reed Hunter Syndrome (Pierre Robin Syndrome Oligodactyly): Pierre Robin syndrome with skeletal dysplasia polydactylia.

Franceschetti Syndrome: Mandibulofacial dysostosis presenting at birth with cyanotic spells. Fishlike facial characteristics, hypoplasia of the mandible, receding chin, considerable overbite, high-arched palate, macrostomia, low-set ears. An autosomal dominant inheritance. The difference with Treacher Collins is believed to be the absence of flattening of the molar bones.