Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

J Craniofac Surg. 2018 Sep;29(6):1596-1600. doi: 10.1097/SCS.0000000000004588.


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.

MeSH terms

  • Adolescent
  • Case-Control Studies
  • Cephalometry
  • Child
  • Clubfoot / diagnostic imaging*
  • Clubfoot / pathology
  • Female
  • Hand Deformities, Congenital / diagnostic imaging*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Jaw Abnormalities / diagnostic imaging*
  • Jaw Abnormalities / pathology
  • Male
  • Pierre Robin Syndrome / diagnostic imaging*
  • Pierre Robin Syndrome / pathology
  • Skull / diagnostic imaging*
  • Skull / pathology

Supplementary concepts

  • Richieri Costa Pereira syndrome