PIERRE ROBIN SEQUENCE
INTRODUCTION
 Micrognathia and glossoptosis (falling backward of the tongue) that can cause
airway obstruction in the newborn.
 Frequently associated with a cleft.
 Reported by Saint-Hilaire (1822).
 Robin drew attention to the clinical significance of the problem (1923).
 Not a genetic syndrome, therefore should not be called Pierre Robin syndrome.
Was called Pierre Robin anomalad at one stage, but now known as Pierre Robin
sequence because it is believed that one condition leads to the next.
DEFINITION
1. Microretrognathia (92%)
a. retraction of the inferior dental arch 10-12 mm behind the superior arch.
b. growth of the mandible catches up during the first year
c. jaw index is defined as the alveolar overjet multiplied by the maxillary arch
divided by the mandibular arch. This index can be used to objectify
mandibular growth. (van der Haven Cleft Palate-Craniofacial Journal 1997)
2. Glossoptosis (70-85%)
a. occurs because of the retro-positioned jaw.
b. genioglossus are shortened and inadequate in preventing the tongue from
falling back.
c. tongue is not actually larger than normal,
3. Cleft palate
a. Present in 50%.
b. U shape in 80%
INCIDENCE
 1 in 9000 live births
 M=F
 occurs as an isolated defect, as part of a recognized syndrome, or as part of a
complex of multiple congenital anomalies.
 condition is not only causally heterogenous but also pathogenetically and
phenotypically variable
AETIOLOGY
 The exact cause is unknown.
Since several anatomic conditions have been
described as being associated with it, it seems likely that there is no single
aetiological factor.
 Theories
1. mechanical theory : Intrautering pressure
a. This theory is the most accepted.
b. In the normal development of the foetus, the head is flexed on to the
manubrium.
c. The tongue is placed high against the palatal shelves.
d. With growth, the head extends, the chin comes forward and the tongue
moves down to allow the palatal shelves to fuse.
e. A delay in this process would lead to mandibular hypoplasia occuring
between the 7th and 11th week of gestation.
f. This keeps the tongue high in the oral cavity, causing a cleft in the
palate by preventing the closure of the palatal shelves.
g. This theory explains the classic inverted U-shaped cleft and the
absence of an associated cleft lip.
h. In addition, the mandible often shows good subsequent growth,
indicating a temporary growth disturbance in utero.
i. Oligohydramnios could play a role in the etiology since the lack of
amniotic fluid could cause deformation of the chin and subsequent
impaction of the tongue between the palatal shelves
2. neurological maturation theory
a. A
delay
in
neurological
maturation
has
been
noted
on
electromyography of the tongue musculature, the pharyngeal pillars,
and the palate, as has a delay in hypoglossal nerve conduction.
b. The spontaneous correction of the majority of cases with age supports
this theory.
3. rhombencephalic dysneurulation theory
a. the motor and regulatory organization of the rhombencephalus is
related to a major problem of ontogenesis.
DIAGNOSTIC CLINICAL FEATURES
 Characteristic bird-like facies with undershot chin.
 Airway and feeding difficulties.
 Check for CP.
 Variable presentation from mild to severe.
 glossoptosis in Pierre Robin sequence can begin a vicious sequence of events, with
airway obstruction, increased energy expenditure, and decreased caloric intake
from impaired feeding.
 Afflicted infants typically fail to thrive because of respiratory and feeding
difficulties, and if these problems are ignored, cardiac failure and death may ensue
(50% mortality in the 1940s)
Respiratory Obstruction
 Children with airway obstruction should have a complete assessment to
anatomically define the site of airway obstruction.
 Glossoptosis causes a ball valve effect with inspiration.
 Recessing and the use of accessory muscles will be seen. Noisy breathing. Hx of
choking and cyanotic spells. Obstruction occurs especially with sleep and seems to
be relieved by struggling, straining or crying. Can lead to brain injury.
 Other causes of respiratory obstruction are:
1) Central neurogenic cause
2) choanal atresia (check by passing a small catheter through each nostril)
3) TOF
4) Laryngomalacia

Investigate with
1. sleep study

continuous monitoring of oxygen saturation, end-tidal CO2, and
EEG output in a sleeping patient
2. direct laryngobronchoscopy

indicated for children who desaturate during any of the following
activities of early life: sleeping, feeding, or wakefulness.

should be performed without an endotracheal tube in place (may
mask tracheomalacia)

Caouette-Laberge (1994) clinical classification of respiratory symptoms:
1. group I, adequate respiration in prone position and bottle feeding;
2. group II, adequate respiration in prone position but feeding difficulties
requiring NGT;
3. group III, children with respiratory distress requiring respiratory support and
NGT.
Feeding Problems
 Feeding difficulties common. Child eats small amounts. Regurgitates frequently.
 Aspirates. FTT. Recurrent URTI.
Tongue Displacement
 Glossoptosis can occur as mentioned. In addition, the tongue can be displaced up
into the cleft and cause direct obstruction of the nasal airway. It may then be
difficult to dislodge. Rapid tongue growth worsens the situation and although the
child may be normal at birth, severe airway obstruction can occur at 7-8 weeks.
 The tongue has been noted to be small (microglossus) or large (macroglossus).
Usually, as the child grows, the tongue assumes a normal size.
 Tongue tie has been described.
Associated Congenital Defects
 Laryngomalacia (10%)
 Cervical spine defects
 Cardiac defects
 Extremity defects
 Ear anomalies
 otitis media (80%)
 hearing loss in 60%
 Eye defects
 Microcephaly, mental retardation, hydrocephalus
 Velopharyngeal insufficiency
 usually more pronounced in these patients than in those with isolated cleft
palate.
Associated Syndromes
1. Stickler syndrome – most common
2. velocardiofacial (Shprintzen) syndrome – 2nd most common
3. trisomy 18 syndrome
4. Möbius syndrome
5. CHARGE association
TREATMENT
 Immediate supportive measures required in over 70% of affected infants
 Urgency of treatment depends on the degree of severity of the airway obstruction
and feeding difficulties. Most cases can be treated conservatively initially.
 Children with neuromuscular factors contributing to airway obstruction or those
with subglottic stenosis are not candidates for either tongue–lip adhesion or
mandibular distraction and should be treated with tracheostomy.
 There is generally adequate catch-up growth in all patients with isolated
Pierre Robin sequence to correct the tongue-base airway obstruction by age
12 months.
 Conservative methods:
1. Prone positioning
a. In some cases, this position must be maintained 24 hours a day, even during
feeding, baths, and diaper changing.
2. nasopharyngeal intubation
a. can provide a temporary airway. Intubation can be difficult and should be
done awake.
 Relatively urgent surgery is indicated with failure of conservative management.
Some authors have advocated surgical intervention when maxillary–mandibular
discrepancy is equal or greater than 8 to 10 mm. Gosain recommends clinical
observations, not maxillary–mandibular discrepancy, should be the guiding
principle of management.
 Surgical methods:
1) Tongue-Lip adhesion

the creation of an adhesion between the tongue and the lower alveolus and
lip

40% of infants will go on to require tracheostomy after tongue-lip
adhesion

Usually taken down at the time of cleft palate repair or when tongue
demonstrates increased muscular movement

potential complications: dehiscence of the adhesion and injury to the
adjacent nervous, vascular, or salivary structures.
2) Transfixion of the tongue by a K wire passed through the angles of the
mandible

dubious benefit
3) periosteal stripping of the genioglossus from the mandible

theory behind this procedure is that this musculature is under tension, and
therefore it pushes the tongue upward and backward, resulting in
respiratory obstruction – dubious benefit
4) Tracheostomy

41% complication rate, 1-3% mortality
5) Distraction Osteogenesis

Shown to reduce time to decannulation and to avoid need for tracheostomy

Indications for distraction
1. Failure of conservative measures to improve respiration and feeding
2. Documented tongue base obstruction

Contraindications
1. Central apnoea
2. Severe reflux
3. Other airway pathology
 Further surgery consists of
a) CP repair

The CP almost always involves the soft palate only or the soft palates and a
posterior portion of the hard palate. The palate is often markedly short (and
high arched).

Usually undertaken at 9 months or later

increased risk of airway problems following palatoplasty. (Cleft Palate
Craniofac J. 2002 Mar)
b) Palatoplasy

A higher proportion will develop VPI compared to typical cleft palates.

Increased risk of airway problems after pharyngoplasty (PRS 1976)

direct correlation seen between the incidence of early postnatal
difficulties and the postoperative obstructive complications after cleft
palate surgery and pharyngeal flap surgery.

Thus, children experiencing obstructive problems at birth (high postnatal
risk group) displayed more severe complications at the time after cleft palate
repair. In children undergoing pharyngeal flap surgery not only early
postoperative obstruction but also late obstructive sleep apnea can occur.
c) Mandible
reconstruction
osteogenesis).
(by osteotomies,
bone
grafts
or
distraction
Osteotomies should be delayed until after eruption of the
permanent dentition.
Orthodontics, genioplasty (implants or re-positioning)
also play a role.
Treatment Protocol at Wisconsin (Gosain J Craniofac PRS 2004)
GROWTH AND DEVELOPMENT
 It used to be believed that some mandibles will catch up and attain normal size
while others will remain small. Ross, however, has shown that all mandibles are
small to a variable degree.
 The airway obstruction usually improves as the child grows
 Repeated episodes of airway obstruction, sleep apnoea, feeding difficulties, FTT
can lead to infant exhaustion and sudden death.
Tongue-Lip Adhesion: Technique
 concept of tongue-lip adhesion for relief of obstructive apnea associated with PRS
was first popularized by Douglas in 1946
 Complications
a. dehiscence
b.
c.
d.
e.
f.
g.
i. Reduced with use of strong muscle-muscle suturing
button and suture cutting through the tongue,
injury to Wharton's duct
scar formation on lip, chin, and floor of mouth
feeding problems
epiglottis tethering leading aspiration
dental abnormalities.
Technique (Chang Gung Hospital)
The lower lip mucosa flap was flipped backward across the gum and sutured to the lower edge of the tongue
wound. Solid muscle-to-muscle approximation between tongue and lower lip was achieved using three to four 4-0
PDS sutures. The sutures were tied the same time after all were placed. Then the tongue mucosa flap was flipped
forward and sutured to the superior edge of lower lip wound, covering the tongue-lip muscle sutures.
Two retention sutures using 3-0 Nylon were anchored near the tongue base, brought out through chin skin surface,
and tied over silicone buttons. Kept for 2 weeks and used to protect the muscle adhesion for smooth healing.
Stickler Syndrome
1 in 7500
Autosomal dominant
Clinical
 Visual symptoms (96%)
o progressive myopia beginning in the first decade of life and resulting in
retinal detachment and blindness.
 Cleft palate
o commonest cause of Pierre Robin sequence
 premature degenerative changes in various joints with abnormal epiphyseal
development and slight hypermobility in some.
 Mitral valve prolapse (50%)
 Hearing loss (70%)
Pathogenesis
 mutation in the COL11A1, COL1A2 or COL2A1 gene
 Defects in type 1 or type 2 collagen
Velocardial facial




1 per 2000-4000 births
90% new mutation, 10% AD
syndrome characterized by the following frequent features
1. cleft palate
2. cardiac anomalies
a. truncus arteriosus, tetralogy of Fallot, pulmonary atresia with ventricular
septal defect
3. typical facies
a. prominent tubular nose, narrow palpebral fissures, and slightly retruded
mandible
4. learning disabilities.
Less frequent features
1. microcephaly
2. mental retardation
3. hypotonia
4. hypernasal speech
5. short stature
6. slender hands and digits
7. minor auricular anomalies
8. inguinal hernia.
9. Pierre Robin sequence (10-15%)
Pathogenesis
 Shows marked overlap with DiGeorge syndrome and share similar gene locus microdeletions in chromosome 22q11
 detectable by current cytogenetic and fluorescence in situ hybridization (FISH)
techniques.