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Pierre Robin sequence (also known as Pierre Robin syndrome or Pierre Robin malformation) is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that falls back in the throat (glossoptosis), and difficulty breathing. The exact cause of Pierre Robin sequence is unknown. It is thought to occur as a result of a series of events during embryonic development.

Signs and Symptoms

The main symptoms of Pierre Robin sequence are a small lower jaw, a tongue that falls back in the throat, and difficulty breathing. Other symptoms may include cleft palate, feeding difficulties, choking episodes, failure to thrive, and speech difficulties.

Causes

The exact cause of Pierre Robin sequence is unknown. It is thought to occur as a result of a series of events during embryonic development. Some researchers believe that a problem with the development of the lower jaw bone (mandible) occurs first. As the mandible grows, the tongue is forced into the upper airway, which can lead to breathing problems and difficulty swallowing.

Diagnosis

Diagnosis of Pierre Robin sequence is usually made at birth or shortly thereafter, based on the presence of the characteristic signs and symptoms. In some cases, the condition may be detected during a prenatal ultrasound.

Treatment

Treatment for Pierre Robin sequence is aimed at managing the symptoms and supporting the child's breathing and feeding. This may include positioning the child on his or her stomach to help keep the airway open, using a feeding tube, and in some cases, surgery to correct the jaw or cleft palate.

Prognosis

The prognosis for children with Pierre Robin sequence varies. With appropriate treatment and management, most children can lead normal lives. However, some may have ongoing difficulties with speech and feeding.

See Also

• Micrognathia
• Glossoptosis
• Cleft palate
• Embryonic development

References

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