Updated 2006-01-18 by Juliana Leite, MD

Original text 1999-05-23 Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Synonyms: Cleft palate-micrognathia-glossoptosis, Pierre Robin sequence, Robin anomaly.

Definition: The Pierre Robin syndrome is a rare malformation that consists of micrognathia, glossoptosis, and a cleft palate.

Incidence: 1:8.500 live births.

Etiology: Autosomal-recessive, with a few X-linked cases. Some authors suggested a prenatal and neonatal brainstem dysfunction as a neuroembryological hypothesis to explain the onset of some cases of Pierre Robin sequence.

Diagnosis: The easiest is to obtain a sagittal section of the face, in which the micrognathia is most visible. Three-dimensional multiplanar imaging increases the likelihood to analyze a true mid line sagittal view of the facial profile. Another important clue is often the polyhydramnios resulting from the failure to swallow properly due to the macro-retroglossia. Other findings can be oro-digestive and cardio-respiratory functional disorders.

Genetic anomalies: Unknown (this is a heterogeneous group of conditions).

Differential diagnosis: The agnathia-microstomiasynotia syndrome (otocephaly) resembles a severe form of Pierre Robin syndrome. Other causes of micrognathia include trisomy 13, trisomy 18 and the cerebro-costo-mandibular syndrome characterized by Pierre-Robin anomaly, multiple rib defects and occasional occurrence of intellectual impairment.

Associated anomalies: May be associated with trisomy 18, Stickler syndrome, and other syndromes. Cardiac abnormalities were also commonly detected with an incidence approaching 20%.

Prognosis: Upper airway obstruction, neonatal respiratory distress and feeding problems.

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation of the pregnancy is chosen. Antenatal recognition is important as it allows the pediatric to provide immediate assistance for the infant. It is a neonatal emergency since the tongue may obstruct the airways and lead to suffocation. Confirmation of diagnosis after birth is important for genetic counseling.

References:

1. James PA, Aftimos S. Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review. Clin Dysmorphol 2003;12(1):63-8
2. Lee W, McNie B, Chaiworapongsa T, Conoscenti G, Kalache KD, Vettraino IM, Romero R, Comstock CH. Three-dimensional ultrasonographic presentation of micrognathia. J Ultrasound Med 2002;21(7):775-81
3. Abadie V, Morisseau-Durand MP, Beyler C, Manach Y, Couly G. Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr 2002;161(5):275-80
4. Hsieh YY, Chang, CC, Tsai HD, Yang TC, Lee CC, Tsai CH. The prenatal diagnosis of Pierre-Robin sequence. Prenat Diag 1999;19567-569