Pierre Robin Syndrome

September 14, 2005
Alexander K. C. Leung, MD

,
Reginald S. Sauve, MD

This neonate was born with a high arched and cleft palate and a small jaw-the result of Pierre Robin syndrome, an autosomal recessive disorder also characterized by micrognathia and pseudomacroglossia.

This neonate was born with a high arched and cleft palate and a small jaw-the result of Pierre Robin syndrome, an autosomal recessive disorder also characterized by micrognathia and pseudomacroglossia. Although the tongue is usually of normal size, the floor of the mouth is foreshortened and the buccal cavity is smaller than normal, which results in glossoptosis. The small mandible may prevent vertical displacement of the tongue during palatal fusion, which results in clefting of the palate. The position of the tongue into the palate explains the “U” shape of the cleft seen in this syndrome as opposed to the “V” shape of the typical cleft palate.

When the child is supine, gravity pulls the tongue backward and down into the pharynx, where it can cause airway obstruction. Periodic cyanotic spells, labored inspiratory breathing, or sleep apnea may occur. Affected infants should therefore be kept prone or partially prone. In severe cases, tracheostomy or temporary suturing of the tongue to the lower lip or the cartilaginous portion of the mandible may be necessary. Feeding problems are common; however, mandibular growth usually relieves the glossoptosis within a few months.

Pierre Robin syndrome occurs in approximately 1 in 8500 live births. Although the disorder often occurs in otherwise normal persons, it may also manifest as one feature of a multiple malformation disorder, such as Stickler syndrome.