Johannes Schubert1, Heiko Jahn, Markus Berginski. 1. Clinic for Oral and Maxillo-Facial Plastic Surgery, Martin Luther University, Halle-Wittenberg, Germany. johannes.schubert@medizin.uni-halle.de
Abstract
OBJECTIVE: The Pierre Robin Sequence (PRS) is a good example of disturbed embryonic development of the secondary palate involving insufficient mandibular growth, failed forward tongue movement, and, in the case of a cleft, impeded fusion of the secondary palate. Discussion continues regarding which of the involved pathogenetic factors is the primary cause of the induced cascade of signs: insufficient mandibular growth or failed descent of the tongue. DESIGN: Forty-five randomly selected, 18-day-old formalin-fixed A/WySn mouse fetuses were investigated. The strain is known to have a basic genetic defect and as much as 44% clefts in the offspring. Twenty-four fetuses in the group had a cleft palate. Mandible position was measured relative to the head and to the presence or absence of a cleft. Cleft width and tongue position were also determined. Thirty-eight NMRI mouse fetuses of the same age served as controls. RESULTS: All A/WySn fetuses showed marked mandibular retrognathia, which was more severe in the cleft group (p < .05), but there was no correlation between the degree of retrognathia and cleft width. The median cleft width was 3.4 mm (1.6 through 6.3 mm). The tongue was in the cleft in all 12 fetuses with wide clefts (>3.4 mm wide), and free in the oral cavity in the other 12. Tongue position did not influence the degree of retrognathia (p < .05). Moreover, the tongue was free in all fetuses with severe retrognathia. CONCLUSION: The results support the primary role of retroposition of the mandible in the development of cardinal symptoms of Pierre Robin Sequence.
OBJECTIVE: The Pierre Robin Sequence (PRS) is a good example of disturbed embryonic development of the secondary palate involving insufficient mandibular growth, failed forward tongue movement, and, in the case of a cleft, impeded fusion of the secondary palate. Discussion continues regarding which of the involved pathogenetic factors is the primary cause of the induced cascade of signs: insufficient mandibular growth or failed descent of the tongue. DESIGN: Forty-five randomly selected, 18-day-old formalin-fixed A/WySn mouse fetuses were investigated. The strain is known to have a basic genetic defect and as much as 44% clefts in the offspring. Twenty-four fetuses in the group had a cleft palate. Mandible position was measured relative to the head and to the presence or absence of a cleft. Cleft width and tongue position were also determined. Thirty-eight NMRI mouse fetuses of the same age served as controls. RESULTS: All A/WySn fetuses showed marked mandibular retrognathia, which was more severe in the cleft group (p < .05), but there was no correlation between the degree of retrognathia and cleft width. The median cleft width was 3.4 mm (1.6 through 6.3 mm). The tongue was in the cleft in all 12 fetuses with wide clefts (>3.4 mm wide), and free in the oral cavity in the other 12. Tongue position did not influence the degree of retrognathia (p < .05). Moreover, the tongue was free in all fetuses with severe retrognathia. CONCLUSION: The results support the primary role of retroposition of the mandible in the development of cardinal symptoms of Pierre Robin Sequence.
Authors: Carole L Marcus; Richard J H Smith; Leila A Mankarious; Raanan Arens; Gordon S Mitchell; Ravindhra G Elluru; Vito Forte; Steven Goudy; Ethylin W Jabs; Alex A Kane; Eliot Katz; David Paydarfar; Kevin Pereira; Roger H Reeves; Joan T Richtsmeier; Ramon L Ruiz; Bradley T Thach; David E Tunkel; Jeffrey A Whitsett; David Wootton; Carol J Blaisdell Journal: Proc Am Thorac Soc Date: 2009-09-15
Authors: Lynn George; Marta Chaverra; Lindsey Wolfe; Julian Thorne; Mattheson Close-Davis; Amy Eibs; Vickie Riojas; Andrea Grindeland; Miranda Orr; George A Carlson; Frances Lefcort Journal: Proc Natl Acad Sci U S A Date: 2013-10-30 Impact factor: 11.205
Authors: Tom B Davidson; Pedro A Sanchez-Lara; Linda M Randolph; Mark D Krieger; Shi-Qi Wu; Ashok Panigrahy; Hiroyuki Shimada; Anat Erdreich-Epstein Journal: BMC Med Genet Date: 2012-03-22 Impact factor: 2.103