Pierre Robin Sequence
Introduction
The surgeons in our center have significant experience with all aspects of treatment related to Pierre Robin Sequence. They are integrated with the New Jersey Institute for Craniofacial Surgery functioning as the Craniofacial Surgeons, Plastic & Reconstructive Surgeons, and Oral & Maxillofacial Surgeons for the Institute.
Pierre Robin Sequence was originally described in 1923 by the French physician, Dr. Pierre Robin, who lived from 1867 to 1949 and was a professor in the French School of Stomatology. Pierre Robin is not a syndrome but rather a collection of signs and symptoms including:
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A small lower jaw
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A tongue that tends to fall to the back of the throat
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Difficulty breathing
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A U-shaped cleft palate (present in 50% of cases)
It is referred to as a “sequence” because it is a sequence of events that produce the characteristic signs and symptoms, rather than a genetic issue. The actual initial event remains unproven, but most experts believe it is somehow related to a change in the positioning of the head during development, possibly a change in the amount of amniotic fluid (oligiohydraminose). This change in positioning of the head blocks normal growth of the mandible (lower jaw), which in turn results in an abnormal positioning of the tongue in the back of the throat. The abnormally positioned tongue leads to difficulty breathing and may block the palatal shelves from uniting in the midline, resulting in the typical U-shaped cleft palate.
Pierre Robin Sequence has a strong correlation with other craniofacial syndromes, in particular Stickler, Nager, and Treacher Collins syndromes. Stickler syndrome is the most commonly associated syndrome. It is important to distinguish between the syndromes because if another syndrome is present, a proper workup for that syndrome must be performed to identify any additional malformations.
The initial concerns in a child born with Pierre Robin Sequence are breathing and feeding issues. Breathing and feeding issues should be addressed in an algorithmic approach beginning with the least invasive treatments and progressing to more invasive treatments as required. Typical treatment protocols for breathing and feeding can be seen on our treatment protocol page.
Treatment Protocol
Children born with Pierre Robin Sequence face two main problems: difficulty breathing and difficulty feeding. The first priority to address is breathing. Breathing issues can be significant because of the small mandible, abnormal tongue positioning, breathing difficulty, and possible cleft palate. The significance of the breathing and feeding difficulties depends on many factors including:
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Associated syndromes (Stickler, Nager, Treacher Collins)
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Premature birth
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Significance of the abnormalities
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Whether a cleft palate is present
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Associated medical issues
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Size and weight of the child
Typically, treatment algorithms are followed in order to determine the least invasive procedures that will effectively relieve the breathing and feeding difficulties. Sometimes surgical procedures are required to improve breathing and feeding.
Typical breathing and feeding treatment algorithms are shown below; however, treatment will vary for each patient, each doctor, and each hospital. This is a sample algorithm; some surgeons and hospitals may follow different algorithms. Naso-endoscopy and bronchoscopy may be performed to identify the site of obstruction to determine the most appropriate treatment.
Typical Breathing Treatment Algorithm
Prone Positioning
Lying flat with chest down
Nasopharyngeal Airway
Placement of a tube in the nose to help breathing
Tongue-Lip Adhesion
A minor procedure to temporarily place the tongue in a more
forward position by securing it to the lower lip
Distraction of the Mandible
Surgery of the lower jaw and the application of a special device that
gradually advances the lower jaw forward over 1 to 2 weeks.
Tracheostomy
Placement of a breathing tube directly into the trachea, bypassing the upper airway.
This may be only temporary.
Typical Feeding Treatment Algorithm
Correct any breathing issues
Observe child feeding; monitor weight trends
Swallowing study to evaluate for coordination of muscles and aspiration
Adjusting thickness of feeds; special feeding bottles
Nasogastric tube: a small tube passed through the nose into the stomach
G-tube: a tube that goes through the skin of the abdomen directly into the stomach
References
Argamaso RV. Glossopexy for upper airway obstruction in Robin Sequence. Cleft Palate Craniofac J. 1992;29:232.
Caouette-Laberge L, Bayet B, and Larocque Y. The Pierre Robin Sequence: review of 125 cases and evolution of treatment modalities. Plast Reconstr Surg. 1994;93:934.
Cohen MM. The Robin anomalad—its specificity and associated syndromes. J Oral Surg. 1976;34:587.
Huang F, Lo LJ, Chen YR, et al. Tongue-lip adhesion in the management of Pierre Robin Sequence with airway obstruction: technique and outcome. Chang Gung Med J. 2005;28:90-96.
Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML. Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Originally published online April 4, 2011; DOI: 10.1542/peds.2010-2615.
Kirschner RE, Low DW, Randall P, et al. Surgical airway management in Pierre Robin Sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J. 2003;4:13-18.
Monroe CW, Ogo K. Treatment of micrognathia in the neonatal period. Plast Reconstr Surg. 1972;50:317-325.
Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29:205.
Schaefer RB, Gosain AK. Airway management in patients with isolated Pierre Robin Sequence during the first year of life. J Craniofac Surg. 2003;14:462-467.
Schaefer RB, Stadler JA, Gosain AK. To distract or not to distract: an algorithm for airway management in isolated Pierre Robin Sequence. Plast Reconstr Surg. 2004;113:1113-1125.
Mandibular Distraction
One of the features of Pierre Robin Sequence is a small jaw. In certain circumstances, the small jaw may contribute to breathing difficulties. If more conservative approaches fail, surgery to move the lower jaw forward may be required to improve breathing. Because, when necessary, this is typically performed at a very young age, conventional jaw surgery techniques cannot be used. A special procedure called distraction osteogenesis is required to lengthen the lower jaw.
Distraction osteogenesis is a procedure in which the lower jaw is sectioned on both sides and special appliances are applied to the jaw. Using these appliances, the jaw can be gradually lengthened over several days, allowing new bone to grow between the sectioned areas of the mandible. This technique essentially “tricks” the body into producing bone between the sectioned segments. The body reacts as though there is a fracture and begins to produce new bone; as the sections are distracted each day, a new space is created and the body produces new bone to fill it. In addition to bone formation, the distraction process stretches the soft tissues in the area, allowing for the movement of the mandible.
Performing this procedure on a young child is complicated by several issues: the operating area is very small; the bone is softer than adult bone; and there are unerupted teeth inside the jaw. A thorough knowledge of distraction principles, techniques, and appliances is necessary to anticipate the entire process correctly. This procedure should be performed only by an experienced craniofacial surgeon. The craniofacial surgeons on our team are at the forefront of distraction osteogenesis and hold two U.S. patents for distraction devices we have created and used for the past 10 years. For more information regarding distraction osteogenesis, please visit our distraction osteogenesis portal.
Future Growth of Mandible
This page is currently under development. Please check back later for information about Future Growth of Mandible.