Pierre Robin syndrome, Pierre Robin malformation, Pierre Robin anomaly, Pierre Robin anomalad[1]
Infant with Pierre Robin sequence
Specialty
Medical genetics
Symptoms
Micrognathia, glossoptosis, obstruction of the upper airway, sometimes cleft palate
Usual onset
During gestation, present at birth
Causes
intrauterine compression of fetal mandible or de-novo mutations (on chromosomes 2, 4, 11, or 17)
Diagnostic method
Physical examination
Treatment
Craniofacial surgery, oral and maxillofacial surgery
Frequency
1 in 8,500 to 14,000 people[2]
Pierre Robin sequence[a] (/pjɛərrɔːˈbæ̃/;[3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway. A wide, U-shaped cleft palate is commonly also present. PRS is not merely a syndrome, but rather it is a sequence—a series of specific developmental malformations which can be attributed to a single cause.[4]
^ abEdwards, JR; Newall, DR (1985). "The Pierre Robin syndrome reassessed in the light of recent research". British Journal of Plastic Surgery. 38 (3): 339–42. doi:10.1016/0007-1226(85)90238-3. PMID 4016420.
^"Isolated Pierre Robin sequence". Genetics Home Reference. Bethesda, Maryland: United States National Library of Medicine. 2019. Retrieved May 11, 2019.
^"merriam-webster.com – Pierre Robin syndrome". Retrieved 30 June 2019.
^Gangopadhyay, N; Mendonca, DA; Woo, AS (2012). "Pierre Robin Sequence". Seminars in Plastic Surgery. 26 (2): 76–82. doi:10.1055/s-0032-1320065. PMC 3424697. PMID 23633934.
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