Sequence: Pierre Robin Sequence

Trường Đại học Tân Tạo 30/12/2017
Lớp YK2 Bộ môn USMLE
Trương Thành Nam Hướng dẫn: Ths. Đặng Thị Bích Thảo
MSSV: 1400056 Essay project 2

Pierre Robin Sequence Introduction : Pierre Robin sequence (PRS) is a rare congenital defect, which was first described by Lannelongue Menard in 1891 as Pierre Robin syndrome. The word “syndrome” then was replaced by “sequence” because the pathogenesis of the condition occurs through a chain of events. The sequence include small jaw (micrognathia), displacement of the tongue (glossoptosis) which consequence to airway obstruction and cleft palate. PRS can be classified into 3 group: PRS without other congenital defects (isolated PRS), with other congenital defects which can be regconized as a syndrome
Recent researches proved that there is an alteration of DNA chain near the SOX9 and KCNJ2 gene which downregulate it forcefully. Follow the downregulation, the protein transcripted by SOX9 gene is reduced, also its function to activate the genes induce bone development. As a result, bones cannot form properly and the one is most affected is the mandible. Follow the mandibular defect, the tongue in push inward and narrow the respiratory tract. The trunk of the tongue also is deviated upward, which impair the closure of the
The usual present is small jaw, dyspnea, dysphagia, and can be cleft palate. It mostly unnecessary to operate and may improve in the first year of age.
Reference :
Ted L Tewfik, MD; Chief Editor: Arlen D Meyers, MD, MBA, Pierre Robin Syndrome, Sep 07, 2017, publiced on Medscape

Beatrice Thouvenin, Juliette Djadi-Prat, Christel Chalouhi, Sebastien Pierrot, Stanislas Lyonnet, Gerard Couly, and Veronique Abadie, Developmental Outcome in Pierre Robin Sequence: A Longitudinal and Prospective Study of a Consecutive Series of Severe Phenotypes, Manuscript Received: 24 November 2011; Manuscript Accepted: 22 October 2012, American journal of medical genetics
Linda P Jakobsen, Reinhard Ullmann, Steen B Christensen, Karl Erik Jensen, Kirsten Mølsted, Karen F Henriksen, Claus Hansen, Mary A Knudsen, Lars A Larsen, Niels Tommerup, Zeynep Tu¨mer, Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2, J Med Genet 2007;44:381–386. doi: 10.1136/jmg.2006.046177, Published by group.bmj.com, May 31, 2015
Amarillo IE, Dipple KM, Quintero-Rivera F. 2013. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet Part A