Craniofacial Features in Richieri-Costa-Pereira Syndrome

Abstract

Objective: Patients with Richieri-Costa-Pereira syndrome (RCPS) present severe craniofacial alterations and frequently require orthodontic and surgical procedures. Thus, this study aims to describe the craniofacial relationships in patients with RCPS. Design: Panoramic radiographs and lateral cephalometric teleradiographs of 7 patients with RCPS and 7 age- and sex-matched nonsyndromic patients were analyzed. Cephalometric measurements were used to determine the size of apical bases, the relationship between them, the pattern of craniofacial growth, and the facial heights of the patients. Interobservers’ concordance was verified by intraclass coefficient. For comparison between the groups, paired t test was employed. P values <.05 indicated statistical significance. Results: Average age of patients with RCPS was 18.5 years. Six patients were female. All patients with RCPS had Pierre-Robin sequence while 2 also presented cleft mandible. Most patients with RCPS had missing lower central incisors (100%), lower lateral incisors (85.7%), lower second premolars (85.7%), and/or upper lateral incisors (57.1%). Concordance between observers was excellent for all cephalometric measurements (0.87-0.99). Patients with RCPS presented severe craniofacial alterations when compared to control group: sella–nasion–B point (SNB) angle (73.8o ± 4.86o vs 78.85o ± 4.53o, P = .029), maxillary length (7.89 cm ± 0.58 cm vs 16.36 cm ± 0.75 cm, P = .001), mandibular length (9.90 cm ± 0.46 cm vs 20.61 cm ± 0.45 cm, P = .001), upper anterior face height (5.41 cm ± 0.50 cm vs 9.40 cm ± 0.47 cm, P = .001), lower anterior face height (5.48 cm ± 0.75 cm vs 11.66 cm ± 0.55 cm, P = .001), and posterior face height (6.70 cm ± 0.33 cm vs 13.65 cm ± 1.06 cm, P = .001). There was no difference in SNB, A point–nasion–B point, pogonion–nasion–B point, and mandibular place angles between the groups ( P > .05). Conclusion: Patients with RCPS present deficient development of maxilla and mandible when compared with nonsyndromic patients.