The pediatrician assigned to the neonatal unit waited until Sarah and Greg remarked that their newborn daughter’s lower jaw looked odd before he mentioned the deformity. He explained that she had Pierre Robin syndrome, then discussed the steps necessary to make sure her airway never became blocked as well as some feeding issues. The first-time parents were stunned.
What is Pierre Robin syndrome?
The Cleft Palate Foundation reports that this condition is also called Pierre Robin sequence and Pierre Robin complex. Its deformities are apparent to health care providers at birth.
The most obvious deformity is a structural problem with the infant’s lower jar. If it’s smaller than normal, the condition is referred to as micrognathia. Pierre Robin babies can also experience a lower jaw that’s set back from their upper jaws. This is known as retrognathia.
Pierre Robin syndrome is named after a French physician of the same name who in 1923 was the first to document the syndrome. The illness can occur on its own, known as isolated Pierre Robin, or as a feature of another condition.
According to MedLinePlus, researchers have yet to uncover the exact cause or causes of this illness. However, they believe they’re most likely linked to a number of genetic problems.
In addition to the unusual appearance of the child’s lower jaw, the tongue tends to get displaced toward the back of the throat. This can restrict the airway. Although the majority of Pierre Robin babies have a cleft palate, they aren’t born with a cleft lip.
What puzzles doctors most about the signs of this syndrome is the fact that its physical attributes might actually be caused by some other disorder or chromosomal abnormality.
Pierre Robin syndrome is considered a rare condition that affects between 1 in 2,000 to 1 in 30,000 newborns. By contrast, babies born with a cleft lip or palate account for only about 1 in 700 births.
Researchers estimate that the chances of a second child being born with the affliction when a first child has the isolated form range from one to five percent. The symptoms sometimes appear in children suffering from Stickler, Velocardiofacial or Treacher Collins syndromes.
Doctors have also observed them in individuals with fetal alcohol and fetal hydantoin syndromes. When the affliction isn’t considered a case of isolated Pierre Robin, a geneticist should conduct a thorough evaluation of the child.
Diagnosis and treatment
Doctors typically diagnose the syndrome based on a physical examination. The most immediate challenges regarding treatment are preventing choking and getting sufficient nutrition to the patient. It’s essential to always protect airways from any blockages.
Fortunately, there’s a good chance that choking and feeding issues will disappear as the lower jaw grows. However, the disease can result in a number of complications. Among them are low levels of oxygen in the child’s blood, brain damage, congestive heart failure, pulmonary hypertension and death.
In a moderate case, a nasal tube can prevent blockage of the airway. However, severe cases usually require surgery to avoid this problem. Surgeons create a hole in the windpipe – a tracheostomy – for some patients. Feeding tubes are often necessary.
It’s essential that parents and others who care for a Pierre Robin child never place an infant on his or her back. Doing so can cause the baby’s tongue to fall back into his or her airway.
Cleft Palate Foundation site