Isolated Pierre Robin Sequence

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Xu, C. Isolated Pierre Robin Sequence. Encyclopedia. Available online: https://encyclopedia.pub/entry/4207 (accessed on 14 September 2026).

Xu C. Isolated Pierre Robin Sequence. Encyclopedia. Available at: https://encyclopedia.pub/entry/4207. Accessed September 14, 2026.

Xu, Camila. "Isolated Pierre Robin Sequence" Encyclopedia, https://encyclopedia.pub/entry/4207 (accessed September 14, 2026).

Xu, C. (2020, December 23). Isolated Pierre Robin Sequence. In Encyclopedia. https://encyclopedia.pub/entry/4207

Xu, Camila. "Isolated Pierre Robin Sequence." Encyclopedia. Web. 23 December, 2020.

Isolated Pierre Robin Sequence

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence

Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.

genetic conditions

References

Amarillo IE, Dipple KM, Quintero-Rivera F. Familial microdeletion of 17q24.3upstream of SOX9 is associated with isolated Pierre Robin sequence due toposition effect. Am J Med Genet A. 2013 May;161A(5):1167-72. doi:10.1002/ajmg.a.35847.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N,Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, ThomasP, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Highly conserved non-codingelements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet.2009 Mar;41(3):359-64. doi: 10.1038/ng.329.
Côté A, Fanous A, Almajed A, Lacroix Y. Pierre Robin sequence: review ofdiagnostic and treatment challenges. Int J Pediatr Otorhinolaryngol. 2015Apr;79(4):451-64. doi: 10.1016/j.ijporl.2015.01.035.
Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A,Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J,FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Identification of novelcraniofacial regulatory domains located far upstream of SOX9 and disrupted inPierre Robin sequence. Hum Mutat. 2014 Aug;35(8):1011-20. doi:10.1002/humu.22606.
Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF,Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z. Pierre Robin sequence maybe caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007 Jun;44(6):381-6.
Mackay DR. Controversies in the diagnosis and management of the Robinsequence. J Craniofac Surg. 2011 Mar;22(2):415-20. doi:10.1097/SCS.0b013e3182074799. Review.
Tan TY, Farlie PG. Rare syndromes of the head and face-Pierre Robin sequence. Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):369-77. doi: 10.1002/wdev.69.
Thouvenin B, Djadi-Prat J, Chalouhi C, Pierrot S, Lyonnet S, Couly G, AbadieV. Developmental outcome in Pierre Robin sequence: a longitudinal and prospectivestudy of a consecutive series of severe phenotypes. Am J Med Genet A. 2013Feb;161A(2):312-9. doi: 10.1002/ajmg.a.35773.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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