Signs, Symptoms, and Diagnosis of Pierre Robin Sequence
- Micrognathism
- Cleft palate
- Unusually small mandible
- Posterior displacement or retraction of the tongue
- Upper airway obstruction
- Respiratory difficulty, especially when supine
- U-shaped and wider palatal cleft
- Diagnosed clinically shortly after birth
- Mechanical basis: restricted intrauterine growth of facial structures, altered mandibular positioning
- Genetic basis: mutations at chromosome 2, 4, 11, or 17, dysregulation of the SOX9 and KCNJ2 genes
- Often part of an underlying disorder or syndrome
Management and Treatment of Pierre Robin Sequence
- Goals focus on breathing, feeding, and growth
- Prone positioning can help with airway obstruction
- Feeding assistance may be required
- Gastroesophageal reflux is more prevalent
- Nasopharyngeal cannulation can maintain airway patency
- Distraction osteogenesis can correct abnormal smallness of jaws
- Cleft palate repair typically done between 6½ months and 2 years
- Special feeding devices and supplementation may be necessary
- Procedures like tongue lip adhesion or mandibular distraction can help open up the airway by repositioning the tongue or jaw
Complications and Prognosis of Pierre Robin Sequence
- Hearing loss and speech difficulty
- Associated with Stickler syndrome, DiGeorge syndrome, fetal alcohol syndrome, Treacher Collins syndrome, and Patau syndrome
- Increased prevalence of gastroesophageal reflux disease (GERD)
- Potential for airway obstruction, hypoxia, and asphyxia
- Long-term management and monitoring required
- Children with PRS generally reach full development and size
- Slightly below average size may be due to chronic hypoxia and nutritional difficulties in infancy
- Once breathing and feeding difficulties are overcome, prognosis is typically good
Medical Team and Speech/Hearing Challenges in Pierre Robin Sequence
- Cleft lip and palate teams consist of various specialists, including ENT surgeons, coordinators, speech and language therapists, orthodontists, psychologists or mental health specialists, audiologists, and nursing staff
- The team collaborates to provide comprehensive care
- Speech language pathologists and audiologists play a crucial role in treatment and management of speech and hearing challenges
- Regular hearing checks and amplification devices like hearing aids may be used
- Tympanostomy tubes may be considered for middle ear effusion
- PRS patients commonly experience moderate to severe hearing loss
Epidemiology, History, and Prevalence of Pierre Robin Sequence
- Prevalence estimated to be around 1 in 5,400 to 14,000 people
- Hearing loss more common in individuals with PRS compared to those with cleft palate without PRS
- PRS-related hearing loss typically bilateral and conductive
- Condition named after the French dental surgeon Pierre Robin
- Noel Rosa, a renowned Brazilian musician, is believed to have had PRS, although the cause of his sunken chin is disputed
- Pierre Robin Sequence is a congenital condition characterized by micrognathia, cleft palate, and glossoptosis
- Prevalence is approximately 1 in every 8,500 to 14,000 births
- Exact cause is unknown, but it is believed to be multifactorial
- Maternal factors such as smoking and alcohol consumption during pregnancy may increase the risk
- Infants with PRS may have difficulty breathing and feeding, respiratory distress, failure to thrive, and ear infections
- Diagnosis is typically made based on physical examination, medical history, and imaging studies
- Treatment aims to ensure a patent airway and adequate nutrition, and may involve positioning techniques, special devices, or surgical intervention
Pierre Robin sequence (/pjɛər rɔːˈbæ̃/; abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway. A wide, U-shaped cleft palate is commonly also present. PRS is not merely a syndrome, but rather it is a sequence—a series of specific developmental malformations which can be attributed to a single cause.
| Pierre Robin sequence | |
|---|---|
| Other names | Pierre Robin syndrome, Pierre Robin malformation, Pierre Robin anomaly, Pierre Robin anomalad |
 | |
| Infant with Pierre Robin sequence | |
| Specialty | Medical genetics |
| Symptoms | Micrognathia, glossoptosis, obstruction of the upper airway, sometimes cleft palate |
| Usual onset | During gestation, present at birth |
| Causes | intrauterine compression of fetal mandible or de-novo mutations (on chromosomes 2, 4, 11, or 17) |
| Diagnostic method | Physical examination |
| Treatment | Craniofacial surgery, oral and maxillofacial surgery |
| Frequency | 1 in 8,500 to 14,000 people |
