A treatment case of Sotos syndrome

Sotos syndrome is a genetic disorder characterized by overgrowth in childhood, specific facial manifestations, advanced bone age, and mental retardation. Although only one case report of Sotos syndrome treated with surgical orthodontics has thus far been published, there have also been a few detailed reports of long-term observation of Sotos syndrome through total orthodontic treatment. This article aimed to present the case of a growing patient with skeletal mandibular protrusion and unilateral posterior crossbite as present in Sotos syndrome treated with a non-surgical orthodontic technique. A 10-year-old boy was diagnosed with skeletal mandibular protrusion and posterior crossbite associated with Sotos syndrome. After maxillary lateral expansion, the skeletal Class III relationship with an anterior crossbite improved owing to mandibular clockwise rotation, while the facemask had a marginal effect. At the completion of growth at 16 years, he had a skeletal Class I relationship, and thus, conventional orthodontic treatment with preadjusted edgewise appliances was initiated. After 41 months of multibracket treatment, acceptable occlusion with a functional Class I relationship was obtained. At 12 months postretention, no or few changes in occlusion and facial features were observed. Our results demonstrate that considering the maxillofacial vertical growth during peripubertal period associated with Sotos syndrome, much attention should be paid to the early orthopedic treatment with the facemask and/or chin cap

Wnt10aおよびWnt10bのダブル変異が歯の発生に及ぼす影響

WNT molecules are the regulators of various biological functions, including body axis formation, organ development, and cell proliferation and differentiation. WNTs have been extensively studied as causative genes for an array of diseases. WNT10A and WNT10B, which are considered to be genes of the same origin, have been identified as causative genes for tooth deficiency in humans. However, the disrupted mutant of each gene does not show a decrease in teeth number. A negative feedback loop, interacting with several ligands based on a reaction–diffusion mechanism, was proposed to be important for the spatial patterning of tooth formation, and WNT ligands have been considered to play a pivotal role in controlling tooth patterning from mutant phenotypes of LDL receptor-related proteins (LRPs) and WNT co-receptors. The Wnt10a and Wnt10b double-mutants demonstrated severe root or enamel hypoplasia. In Wnt10a-/- and Wnt10a+/-;Wnt10b-/- mice, changes in the feedback loop may collapse the modulation of fusion or split a sequence of tooth formation. However, in the double-knockout mutant, a decrease in the number of teeth was observed, including the upper incisor or third molar in both jaws. These findings suggest that there may be a functional redundancy between Wnt10a and Wnt10b and that the interaction between the two genes functions in conjunction with other ligands to control the spatial patterning and development of teeth