Pierre Robin syndrome

Etiology

• may be associated with many genetic syndromes

Clinical manifestations

• cleft palate (soft palate)
• high-arched palate
• micrognathia with small (receding) chin
• jaw that is far back in the throat
• recurrent otitis
• small opening in the roof of the mouth, which causes choking
• teeth that appear when the baby is born (natal teeth)
• tongue that is large compared to the jaw

Complications

• feeding difficulties
• choking episodes
• dyspnea, especially when the child sleeps
• congestive heart failure
• ischemia & brain damage (due to difficulty breathing)
• pulmonary hypertension
• death

Management

• do not put infants on their back
• tracheal intubuation in moderate cases
• surgery in severe cases
• nasogastric tube may be needed for feeding

More general terms

• genetic syndrome (multisystem disorder)