Pierre Robin Syndrome

Evidence 

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31374 

Tiong Yang Tan, Nicky Kilpatrick, Peter G. Farlie 

Pierre Robin sequence (PRS) is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period. The respiratory issues require careful management and in severe cases may require extended stays in neonatal intensive care units and surgical intervention such as lengthening the lower jaw or tracheotomy to relieve airway obstruction 

Education 

Pierre Robin (Pronounced Row-barn) Sequence (PRS) is a congenital condition and is characterised by the existence of three abnormalities: 

1. a small or underdeveloped lower jaw  

1. a tongue that is further back than usual  

1. upper respiratory breathing obstruction.

The existence of all three abnormalities together determines the diagnosis of Pierre Robin Sequence. During the very early stages of pregnancy, a baby’s jaw goes through a rapid growth period. In a child with PRS, this growth is restricted, resulting in the lower jaw being much smaller than it’s expected size. 

The underdeveloped jaw causes the tongue to become crowded within the mouth. As a result, the tongue sits high and is pushed backwards into the airway. The high position of the tongue then interferes with the closure of the palate. 

The palate is generally formed at around 8-10 weeks gestation, when the two shelves of the palate grow and join at the midline forming the “roof of the mouth”. 

In a baby with PRS, the tongue has been pushed up high into this cavity preventing the joining of the plates, resulting a wide U-shaped cleft of the soft and or hard palate. 

After a baby is born a breathing obstruction may also result from the position of the tongue within the mouth. Due to the small jaw, the tongue is may also pushed further backwards into the airway, resulting in difficulty breathing. This is known as Upper Airway Breathing Obstruction. 

How is Pierre Robin Sequence diagnosed? 

Although the presence of a small jaw and sometimes a cleft palate may be seen with medical imaging during pregnancy, the diagnoses for PRS can only be truly made by  

examining your baby after birth, as only then can the level of obstruction (if any) be assessed. 

Your doctor will examine and observe your baby to determine that the three elements of PRS, being a small lower jaw, tongue setback and airway obstruction are prevalent. 

Diagnosis can occur shortly following birth or in some cases it may take a few days or even weeks to notice the airway obstruction. 

Management 

The treatment of Pierre Robin Sequence focuses on addressing breathing and feeding difficulties, as well as ensuring proper growth and development.  

Management options may include: 

• Positioning techniques: Placing the baby in a prone (on the stomach) or lateral (on the side) position to help keep the airway open. 

• Nasopharyngeal airway: Inserting a small tube through the nose into the airway to assist with breathing. 

• Orthodontic device such as Tubingen plate to push the tongue forward and cover the cleft palate 

• Feeding strategies: Providing specialized feeding techniques, such as using special bottles or feeding tubes, to ensure adequate nutrition. 

• Surgical intervention: Surgery may be recommended to repair the cleft palate or to advance the jaw (mandibular distraction osteogenesis) in severe cases. 

Empowerment 

Babies with Pierre Robin Sequence require close monitoring by a multidisciplinary team, including paediatricians, otolaryngologists (ENT specialists), speech therapists, and nutritionists. Regular follow-up visits are essential to assess growth, development, and the need for additional interventions. 

With appropriate management and intervention, the long-term outlook for children with Pierre Robin Sequence can be favourable. Many children experience improvement in breathing and feeding as they grow older, and surgical interventions can help address anatomical issues associated with the condition. 

Parents of infants diagnosed with Pierre Robin Sequence may benefit from education and support from healthcare professionals to understand the condition, treatment options, and expected outcomes.  

Useful Links   

Pierre Robin Australia 

www.pierrerobin.org.au/ 

The Royal Children’s Hospital, Melbourne 

https://www.rch.org.au/kidsinfo/fact_sheets/pierre_robin_sequence_prs/ 

PANDA - Perinatal Anxiety & Depression Australia 

https://panda.org.au/ 

For When – Perinatal Mental Health and Wellbeing 

https://forwhen.org.au