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PIERRE ROBIN SEQUENCE
by Alana Poos
A great aid to coping with a birth defect is simply knowing what it is. While there might be a great deal of information on cleft lip and/or palate, there simply isn't an abundance of information readily available to parents of children with cleft-related birth defects, especially those that are considered rare.
The following information has been obtained from a number of sources, and will hopefully help to clarify exactly what Pierre-Robin Sequence is.
WHAT IS PIERRE ROBIN SEQUENCE?
Pierre Robin Sequence is the name given to a birth defect that involves an abnormally small lower jaw, and a tendency for the tongue to "ball up" and fall backward toward the throat. Babies born with this condition may or may not have a cleft palate, but they do not have a cleft lip. The condition of Pierre Robin Sequence was first described in 1822 and was named after the French physician who associated the above symptoms with breathing problems in affected infants. The current complete name is "Pierre Robin Malformation Sequence", but it can also be known as "Cleft Palate, Micrognathia, and Glossoptosis", "Robin Anomalad", "Pierre Robin Complex", and "Pierre Robin Syndrome".
The exact cause of Pierre Robin Sequence is unknown, but during the early stages of fetal development, the lower jaw fails to fully develop. The small jaw seems to prevent the tongue from descending into the oral cavity, and this in turn prevents the palate from closing completely. Currently, there is no supporting evidence to suggest that the failure of the lower jaw to develop is due to an abnormality of genes or chromosomes, or to factors such as drugs, x-rays, or maternal diet.
This sequence is quite uncommon, occurring once in every 8,000 live births, and may occur as infrequently as once in every 30,000 live births. By comparison, cleft lip and/or palate occurs once in every 750 live births.
The risk of future children being affected with this condition is considered to be within the 1% to 5% range. Unfortunately, there have not been enough large studies done for geneticists to predict a rate of recurrence. Pierre Robin Sequence can often be part of a larger syndrome, the most common of which is Stickler Syndrome. The recurrence risk for Sticklers is different than for Pierre Robin Sequence. When a diagnosis of Pierre Robin Sequence has been made, it is important that a geneticist be consulted as part of the multidisciplinary craniofacial team.
The degree of severity in Pierre Robin Sequence, varies from child to child. Difficulty in breathing and feeding are the problems with the greatest concern. Parents are advised on how best to position their babies to aid in breathing. For more seriously affected infants, positioning alone may not be enough and the pediatrician may recommend special devices to ease breathing and assist in feeding. In some cases, these infants require a surgical procedure to facilitate breathing and feeding.
It is important to remember that Pierre Robin Sequence is a cleft related disorder. Almost all children with clefts of the palate are prone to fluid build-up behind the eardrum, which can mildly or moderately affect hearing. This fluid can also lead to ear infections if left untreated. Ongoing monitoring by an Ears, Nose and Throat specialist, and audiologists who specialize in testing infants and children, is recommended.
Studies on reported cases of Pierre Robin Sequence show that the small lower jaw, that is so noticeable at birth, will grow to more normal proportions between 3 to 18 months of age. The length of time varies with the severity of the condition. Most children present a normal profile by
six years of age. Surgical advancement of the lower jaw is rarely required.
The cleft palate must be surgically closed, and this is usually done between 12 to 18 months of age. Surgery can sometimes be delayed to take advantage of growth which may tend to narrow the opening in the palate. In cases where surgical interventions are required to assist with breathing, surgery may also be delayed to avoid further complications.
Children with a cleft palate may have difficulty with proper speech development, and should be monitored by a Speech Pathologist or participate in speech therapy, if their speech is not developing adequately.
----- Information compiled by Alana Poos, from the following sources: Cleft Palate Foundation, U.S.A.; National Center for Biotechnology Information - Online Mendelian Inheritance in Man and PubMed Medline; National Organization of Rare Disorders; Cedars-Sinai Medical Center NICU -
Neonatology on the Web