pierre-robin in a nutshell

[mommy030507]

 If you have anymore questions, feel free to ask me. I'll be happy to answer them

Alternative Names    Return to top

Robin sequence

Definition    Return to top

Pierre Robin syndrome (also called Pierre Robin complex or sequence) is a condition present at birth marked by a very small lower jaw (micrognathia). The tongue tends to fall back and downward (glossoptosis) and there is cleft soft palate.

Causes    Return to top

The specific causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly over the first few months of life before birth, but speeds up during the first year after birth. The falling back of the tongue may cause choking episodes and feeding and breathing difficulties, especially when the child sleeps.

Symptoms    Return to top

• Very small jaw with marked receding chin
• Large-appearing tongue in relation to jaw
• Jaw placed unusually far back in the throat
• High-arched palate
• Cleft soft palate
• Small opening in the roof of the mouth, which causes choking
• Natal teeth (teeth appearing when the baby is born)

Exams and Tests    Return to top

A physical examination is usually sufficient for your health care provider to diagnose this condition. Consulting with a genetics specialist can rule out other linked problems and syndromes.

Treatment    Return to top

Infants must be kept face down, which helps the tongue fall forward and keep the airway open. These problems get better over the first few years as the lower jaw grows to a more normal size.

In moderate cases, the patient requires placement of a tube through the nose and into the airway to avoid airway blockage. In severe cases, surgery is needed to prevent upper airway obstruction. A tracheostomy (surgery to make a hole in the windpipe) is sometimes required.

Feeding must be done very carefully to avoid choking and aspiration of liquids into the airway.

Support Groups    Return to top

For support and information, see www.pierrerobin.org and www.cleftline.org.

Outlook (Prognosis)    Return to top

Choking and feeding problems may go away spontaneously as the jaw grows. There is a significant risk of problems if the airway is not protected against obstruction.

Possible Complications    Return to top

• Feeding through a tube may occasionally be necessary to avoid choking
• Difficulty breathing may lead to low blood oxygen and brain damage
• Pulmonary hypertension
• Congestive heart failure
• Death

When to Contact a Medical Professional    Return to top

This condition is often apparent at birth. Call if choking episodes or breathing problems increase in frequency. Airway blockage may be indicated by a high-pitched, crowing noise when the child inhales (stridor) or blueness of the skin (cyanosis). Also call if other breathing problems occur.

Prevention    Return to top

Prevention of the syndrome is unknown. Treatment may reduce the number of episodes of breathing problems and choking.

 

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Pierre Robin Sequence (PRS), also known as Pierre Robin Syndrome or Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. As PRS is not caused by a single defect gene, it is not a genetic syndrome, but rather a chain of certain developmental malformations, one entailing the next.

PRS is characterized by an unusually small jaw (micrognathia), posterior displacement or retraction of the tongue (glossoptosis), and upper airway obstruction. Incomplete closure of the roof of the mouth (cleft palate), is present in the majority of patients, and is commonly U-shaped.

It is not known just how this abnormality occurs in infants, but one theory is that, at some time during the stage of the formation of the bones of the fetus, the tip of the jaw (mandible) becomes 'stuck' in the point where each of the collar bones (clavicle) meet (the sternum), effectively preventing the jaw bones from growing. It is thought that, at about 12 to 14 weeks gestation, when the fetus begins to move, the movement of the head causes the jaw to "pop out' of the collar bones. From this time on, the jaw of the fetus grows as it would normally, with the result that, when born, the jaw of the baby is much smaller (micrognathia) than it would have been with normal development, although it does continues to grow at a normal rate until the child reaches maturity.

PRS is often part of an underlying disorder or syndrome. The most common is Stickler Syndrome. Other disorders causing PRS, according to Dr. Robert J. Sphrintzen Ph.D. of the Center for Craniofacial Disorders Montefiore Medical Center are Velocardiofacial syndrome, Fetal Alcohol Syndrome and Treacher Collins Syndrome. For more disorders associated with PRS see Dr. Sphrintzen's article entitled The Implications of the Diagnosis of Robin Sequence.

The syndrome is generally diagnosed shortly after birth. It has an incidence ranging from 1 in 8500 to 1 in 30,000. The most important medical problems are difficulties in breathing and feeding. Affected infants very often need assistance with feeding, for example needing to stay in a lateral position, needing specially adapted teats or spoons to feed, and often needing nasogastric feeding or supplemental feeding for periods due to slow feeding. This is related to the difficulty in forming a vacuum in the oral cavity related to the cleft palate, as well as to breathing difficulty related to the posterior position of the tongue. Infants, when moderately to severely affected, may occasionally need nasopharyngeal cannulation or more rarely endotracheal intubation or tracheostomy to overcome upper respiratory obstruction.

In nasopharyngeal cannulation, the infant is fitted with a blunt-tipped length of surgical tubing, which is inserted into the nose and down the throat, ending just above the esophagus. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which makes further airways on either side of the tube between the tongue and the throat wall, thus assisting the infant in breathing and preventing the tongue from falling back down into the throat, which would cause the infant to asphyxiate. Nasopharyngeal cannulation should be favoured over the other treatments mentioned in this article, as it is far less invasive, it allows the infant to feed without the further placement of a nasogastric tube, and the infant can be placed in the prone position without fear of asphyxiation. This treatment may be necessary for a period of up to six months or more, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat).

The cleft palate is generally repaired between the ages of 6 1/2 months and 2 years by a plastic or maxillofacial surgeon. In many centres there is now a cleft lip and palate team comprising both of these specialties, as well as a coordinator, a speech and language therapist, an orthodontist, sometimes a psychologist or other mental health specialist, an audiologist, an otorhinolaryngologist (ENT surgeon) and nursing staff. The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than average. In some cases jaw distraction is needed to aid in breathing and feeding. Lip-tongue attachment is performed in some centres, though its efficacy has been recently questioned.

Children affected with PRS usually reach full development and size. However, it has been found internationally that the child is often slightly below average size, raising concerns of incomplete development due to chronic hypoxia related to upper airway obstruction as well as lack of nutrition due to early feeding difficulties.

[kerasmom102606]

Nov. 8, 2007 at 9:10 AM wow thank you for the info, i was somewhat unsure of what  PRS was

[aikballer]

Nov. 12, 2007 at 11:06 AM very informative. i had never heard of it before now.

[nikkihere]

Jan. 15, 2008 at 7:37 AM Thank You for the info on PRS, I wish you and your family well !

[jessicarenae_21]

Mar. 16, 2008 at 4:02 AM Wow, I've never heard of that before! That is very interesting! I hope all is well with your daughter! How is she? I'm just curious....it says above that they have to be kept face down......how do you go about her sleeping and everything? But ne ways, your daughter is adorable!

[CariO.]

Oct. 9, 2008 at 5:51 PM

My cousin Melanie is a maxilliofacial surgeon up in Spokan, WA.  She is a DDS and an MD and very good at what she does.  You can send me a message if you want more info on her.  If you already have a wonderful doctor who you trust, then no need.  I wish your baby all the best!!

 

[mommy030507]

Apr. 21, 2009 at 6:48 PM

If any of you ladies want to know more, or would like first hand stories or experiences let me know. I'll tell you what we have been through and how we handled it. Thanks for looking at this journal ladies. It makes more people aware of this rare syndrome.

(Original Poster)