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Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.
J Craniofac Surg. 2018 Sep; 29(6):1596-1600.JC

Abstract

The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible.

Authors+Show Affiliations

Department of Orthodontics, Hospital of Rehabilitation of Craniofacial Anomalies.Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (USP), Bauru.Department of Orthodontics, School of Dentistry of Araraquara, State University of São Paulo (UNESP), Araraquara.Genetics Sector.Genetics Sector.Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (USP), Bauru.Pediatric and Community Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29863549

Citation

Pinto, Rayane de Oliveira, et al. "Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome." The Journal of Craniofacial Surgery, vol. 29, no. 6, 2018, pp. 1596-1600.
Pinto RO, Peixoto AP, Pinto ADS, et al. Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. J Craniofac Surg. 2018;29(6):1596-1600.
Pinto, R. O., Peixoto, A. P., Pinto, A. D. S., Richieri-Costa, A., Zechi-Ceide, R. M., Ozawa, T. O., & Dalben, G. D. S. (2018). Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. The Journal of Craniofacial Surgery, 29(6), 1596-1600. https://doi.org/10.1097/SCS.0000000000004588
Pinto RO, et al. Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. J Craniofac Surg. 2018;29(6):1596-1600. PubMed PMID: 29863549.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. AU - Pinto,Rayane de Oliveira, AU - Peixoto,Adriano Porto, AU - Pinto,Ary Dos Santos, AU - Richieri-Costa,Antonio, AU - Zechi-Ceide,Roseli Maria, AU - Ozawa,Terumi Okada, AU - Dalben,Gisele da Silva, PY - 2018/6/5/pubmed PY - 2018/12/21/medline PY - 2018/6/5/entrez SP - 1596 EP - 1600 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 29 IS - 6 N2 - The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/29863549/Cephalometric_Findings_in_Nine_Individuals_With_Richieri_Costa_Pereira_Syndrome_ L2 - https://doi.org/10.1097/SCS.0000000000004588 DB - PRIME DP - Unbound Medicine ER -