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Pierre Robin Syndrome pictures

What is Pierre Robin syndrome?

It is a name given to a birth defect that appears together such as micrognathia (small lower jaw), glossoptosis (the tongue balls up at the back of the mouth and falls back towards the throat), difficulty breathing, and a horseshoe-shaped cleft palate.


Pierre Robin syndrome is also called Pierre Robin sequence, Pierre Robin malformation sequence, and Robin anomalad. (1, 2, and 3)

Pierre Robin syndrome pictures The clinical features of a child with Pierre Robin syndrome.picturepicture 1: The clinical features of a child with Pierre Robin syndrome.

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Pierre Robin syndrome pictures A child with features of Pierre Robin syndrome.picturepicture 2: A child with features of Pierre Robin syndrome.

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Pierre Robin syndrome pictures A before and after craniofacial surgery photo of a child with Pierre Robin syndrome.picturepicture 3: A before and after craniofacial surgery photo of a child with Pierre Robin syndrome.

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What is the cause of Pierre Robin syndrome?

Many experts believed that this condition has something to do with the positioning of the fetus in the early weeks of pregnancy. It is also associated with failure of the lower jaw to develop fully before birth.

If the lower jaw is not fully developed, the tongue will have the tendency to prevent the palate from closing, which could lead to a cleft palate. The clinical manifestations of Pierre Robin syndrome are somewhat similar to that of the Stickler syndrome. (3, 4)

Pierre Robin syndrome picture Cleft palate, one of the clinical manifestations of Pierre Robin syndrome.imagepicture 4: Cleft palate, one of the clinical manifestations of Pierre Robin syndrome.

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Clinical manifestations

  • The patient has a high-arched palate and cleft soft palate.
  • The jaw and chin are small.
  • The jaw appears to be far back in the throat. (2)
  • The patient has a small opening in the roof of the mouth.
  • The tongue is larger than the jaw.
  • The patient is prone to infection.
  • The child may have an ear infection, reduced hearing, and problem in feeding during infancy.
  • Pierre Robin syndrome does not run in the family. (5)

 

Pierre Robin syndrome treatment

Pierre Robin syndrome pictures Feeding techniques in a patient with feeding difficulty secondary to Pierre Robin syndrome.imagepicture 5: Feeding techniques in a patient with feeding difficulty secondary to Pierre Robin syndrome.

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Pierre Robin syndrome pictures One of the management methods in patients with Pierre Robin syndrome.photopicture 6: One of the management methods in patients with Pierre Robin syndrome.

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Pierre Robin syndrome pictures Addressing the tongue problem in patients with Pierre Robin syndrome.picturepicture 7: Addressing the tongue problem in patients with Pierre Robin syndrome.

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There are various treatment methods for Pierre Robin syndrome. Supportive management is one. Other treatment modalities include using special devices to aid in feeding and protect the airway.

Pierre Robin syndrome surgery can be performed but it depends on the clinical assessment of the patient. Usually, a surgery is performed to repair the cleft palate. Surgery is also done to improve the patient’s breathing. (6, 7, and 8)

What are the possible complications?

  • Feeding difficulties
  • Breathing difficulty, especially when sleeping
  • A possibility of choking
  • Congestive heart failure
  • Pulmonary hypertension
  • Low blood oxygen, which could lead to brain damage
  • Death (8)

When should you seek medical help?

Given the clinical manifestations mentioned above, the condition can be diagnosed at birth. If the patient has choking episodes or problem in breathing, you need to call out for help. (5, 6)

Pierre Robin syndrome prognosis

A child with Pierre Robin syndrome can reach full development and size. However, the child is below the average size, which leads to incomplete development due to chronic hypoxia secondary to airway obstruction. The child will have feeding difficulties, which greatly affects the nutrient level in the body. The overall prognosis is quite good as long as feeding and breathing difficulties are addressed. (1, 4, and 8)

References

  1. https://en.wikipedia.org/wiki/Pierre_Robin_syndrome
  2. https://emedicine.medscape.com/article/995706-overview
  3. http://www.faces-cranio.org/Disord/PierreRobin.htm
  4. http://www.cleftline.org/who-we-are/what-we-do/publications/pierre-robin-sequence/
  5. https://rarediseases.org/rare-diseases/pierre-robin-sequence/
  6. https://patient.info/doctor/pierre-robin-sequence
  7. https://www.craniofacial.net/pierre-robin-sequence-dallas/
  8. https://www.webmd.com/children/pierre-robin-sequence

 

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