Contribution of a better maxillofacial phenotype in Silver-Russell syndrome to define a better orthodontics and surgical management

Abstract

Introduction: Maxillofacial phenotype for SRS is incompletely described in literature. The aim of this study was to describe a maxillofacial phenotype for SRS, to determine a better treatment.

Materials and methods: A retrospective study was conducted including 37 patients with SRS. 24-control patients had been included and appareled. The subjective clinical examination included analyzes of SRS defined criteria. Frontal and lateral photographs had been reviewed, according to Farkas analysis; dental photographs had been examined for the deep-bite and the crowding severity. Radiologic cephalometric analysis had been reviewed.

Results: Maxillofacial examination showed protruding forehead (55%), anteverted ears (55%) and low-set ears (16%), small triangular face (48%); retrognatia (29%) and micrognathia (13%). SSR patients presented a lower forehead transverse growth, forehead height, and higher sagittal and transverse mandibular growth than control patients. Deep-bite was present in 21 patients of patient, and crowding in 17 patients. Cephalometric analysis showed 18 patients with the skeletal class II. We did not note a correlation between sleep apnea and retrognatia, neither between genetic anomalies and craniofacial phenotype.

Conclusion: In this study, we showed new SRS characteristics: small forehead, small mandible, skeletal class II and a dental phenotype, leading to a specific maxillofacial and orthopedic management.

Keywords: Maxilla-facial phenotype; Retrognatia; Silver–Russell syndrome.