Pierre Robin sequence

Advertisement -

Pierre Robin sequence (also known as Pierre Robin syndrome or malformation) is a birth defect characterized by an abnormally small jaw (micrognathia), usually with cleft soft palate. It is rare, occurring in around 1 in 8500 live births, and it affects males and females equally. It can occur alone or in combination with other syndromes such as Stickler syndrome or velocardiofacial syndrome (DiGeorge syndrome).

Peirre Robin sequenceIn this condition the tongue tends to rest at the back of the throat (glossoptosis) because there is insufficient room for it to lie flat in the very small jaw. This can lead to problems with breathing. The jaw does not remain small throughout life but grows to normal size during infancy. Many affected infants also have otitis media and other abnormalities of the auditory system.

The causes of Pierre Robin syndrome are unknown. There may be a genetic component, especially if the condition appears along with other abnormalities. When it appears alone, it seems not to have a genetic cause. There are several theories about the cause of isolated Pierre Robin syndrome, including intrauterine mechanical problems and teratogenic causes such as maternal alcohol consumption.
The condition is diagnosed by physical examination. Infants should be evaluated for other syndromes; if they are also present, a genetic consultation may be advised.

Since the jaw usually grows to normal size over the first two years of life, supportive care is generally sufficient but a tracheotomy may be needed to maintain the airway if the tongue is causing difficulty breathing. Because the tongue tends to fall back into the throat, these children must always sleep face down. In severe cases where oral nutrition is not possible, a gastrostomy tube may be placed for feeding. Surgery is needed to correct the cleft palate. In very severe cases, a surgical procedure called distraction osteogenesis may be performed to encourage new bone to grow without the need for bone grafts.