PIERRE ROBIN SYNDROME

What is it?

• Malformation of the mandible and palatine bones causing airway problems.

Photo from Google.com

Photo from Google.com

Anatomic Alterations:

• Smaller than normal mandible (micrognathia) (faces-cranio.org).

• Tongue that falls into back of throat (glossoptosis) (faces-cranio.org).

Etiology:

• The actual cause is unknown (nlm.nih.gov).
• Doctors speculate fetal positioning may be a cause (faces-cranio.org).

Critical Thinking:

-Obstructive Sleep Apnea

What other patients

do we treat that often suffer from

glossoptosis? How could glossoptosis cause a problem

with the airway?

That's right!

A tongue that falls back into the back of the mouth could certainly make it hard to breathe.

The tongue may be blocking the airway causing an obstruction!

Epidemiology:

• "The prevalence of this syndrome has been estimated at 1 in 10,000 births, but precise values are difficult to obtain because the definition of the syndrome is variable" (Orpha.net)

PIERRE ROBIN SEQUENCE

Critical Thinking:

Any questions?

Would a patient with PRS be a "difficult airway" for intubation?

Other Complications:

-Absolutely!

With the malformation of the jaw and a large upper airway obstruction, intubation would be very difficult.

(medscape.com)

• Congestive heart failure
• Choking
• Low blood oxygen
• Pulmonary hypertension

Clinical Manifestations:

References:

(nlm.nih.gov).

"Pierre Robin Syndrome: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 28 Apr. 2015.

"Pierre Robin Sequence." Pierre Robin Sequence. N.p., n.d. Web. 28 Apr. 2015.

"Pierre Robin Sequence Clinical Presentation." Pierre Robin Sequence Clinical Presentation. N.p., n.d. Web. 28 Apr. 2015.

-Brain damage, ARDS,

aspiration, pneumonia,

and death.

Critical Thinking:

"The Portal for Rare Diseases and Orphan Drugs." Orphanet: Isolated Pierre Robin Syndrome. N.p., n.d. Web. 28 Apr. 2015.

Good answers!

Why may a patient with

Pierre Robin have

difficulty feeding?

• Small jaw
• Cleft or high palate
• Receding chin
• Recurring ear infections
• Natal teeth
• Large appearing tongue
• Breathing problems
• Feeding problems

(nlm.nih.gov)

Critical Thinking:

What other medical complications could arise if a severe case is left untreated?

Hint: Think hypoxemia and respiratory distress.

Hannah Slack

April 29th, 2015

Photo from Google.com

Neonatal Mandibular Distraction Surgery:

-Inability to breathe

Video from Youtube.com

Fun Fact:

In mild to moderate cases, the

jaw may grow and repair itself within the first two years of life!

(faces-cranio.org)

Exactly!

With the tongue blocking the airway, the baby cannot breathe and feed at the same time.

Pierre Robin babies are at high risk of aspiration!

Photo from Google.com

Treatment:

X-Ray

• Notice the lower mandible is receded compared to the upper.

• Tracheotomy
• Neonatal Mandibular Distraction surgery
• Cleft palate repair

(Medscape.com)

*Most patients require surgery

soon after birth due to

respiratory complications

Cardiopulmonary Manifestations:

(Medscape.com).

General Management:

• Sternal retractions
• Hypoxemia
• Cyanosis
• Increased respiratory rate
• Increased depth of breathing
• Nasal flaring

(Medscape.com)

• Place patient prone
• Provide supplemental oxygen if needed
• Be cautious when feeding
• Place endotracheal tube or orophayngeal

airway if needed

• Provide airway pressure(CPAP, PEEP)if needed
• Place feeding tube if needed

*Most patients can be successfully treated

by being placed prone with oxygen

therapy.

Critical Thinking:

Diagnosis:

Due to the patient having difficulty keeping a patent airway, what position could the patient be placed in to help prevent an obstruction?

Information from (Medscape.com), (nlm.nih.gov), and (faces-cranio.org)

-Prone position

Correct!

Pierre Robin patients should be left prone to prevent an airway obstruction (nlm.nih.gov).

*Be sure to monitor them due to risk of suffocation if unable to lift head off ground.

• Seen at birth in most cases (nlm.nih.gov).
• Physical exam of infant (nlm.nih.gov).
• Genetic specialist can rule out any further problems linked to Pierre Robin (nlm.nih.gov).