Pierre Robin sequence

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Pierre Robin sequence
Synonyms	Pierre Robin syndrome, Pierre Robin complex
Pronounce	N/A
Specialty	N/A
Symptoms	Micrognathia, glossoptosis, cleft palate
Complications	Airway obstruction, feeding difficulties, failure to thrive
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation, syndromic
Risks	Family history, genetic syndromes
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Treacher Collins syndrome, Stickler syndrome, 22q11.2 deletion syndrome
Prevention	N/A
Treatment	Airway management, feeding support, surgical intervention
Medication	N/A
Prognosis	Variable, depends on associated conditions
Frequency	1 in 8,500 to 14,000 live births
Deaths	N/A

Pierre Robin sequence

Pierre Robin sequence

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 and obstructs the airway (glossoptosis), and difficulty breathing. Some children with Pierre Robin sequence may also have a cleft palate.

Causes

The exact cause of Pierre Robin sequence is unknown. It is believed to occur when the lower jaw does not grow properly during fetal development. This causes the tongue to be positioned at the back of the mouth, which can block the airway and cause difficulty breathing. In some cases, Pierre Robin sequence may be associated with genetic conditions or syndromes, such as Stickler syndrome or Velocardiofacial syndrome.

Symptoms

The main symptoms of Pierre Robin sequence are a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. Other symptoms may include feeding difficulties, failure to thrive, and ear infections. Some children with Pierre Robin sequence may also have a cleft palate.

Diagnosis

Pierre Robin sequence is usually diagnosed at birth based on the physical characteristics of the infant. Additional tests may be performed to confirm the diagnosis and to check for any associated conditions or complications. These may include a physical examination, imaging tests such as X-rays or CT scans, and genetic testing.

Treatment

The treatment for Pierre Robin sequence depends on the severity of the symptoms and the presence of any associated conditions or complications. Treatment options may include positioning the infant in a way that helps to keep the airway open, surgery to correct the jaw or cleft palate, and therapies to help with feeding and speech development.

Prognosis

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

See also

• Micrognathia
• Glossoptosis
• Cleft palate
• Stickler syndrome
• Velocardiofacial syndrome

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