Craniofacial growth in Sotos syndrome

Abstract

Abstract Sotos syndrome is a congenital genetic disorder characterized by overgrowth starting before birth, specific facial manifestations, advanced bone age, and developmental impairment. The characteristics of craniofacial development in Sotos syndrome have yet to be clarified. Eight patients with Sotos syndrome were studied and two types of mutations and a submicroscopic deletion within the NSD1 gene were verified using genetic analysis. Regarding craniofacial growth, the length between the nasion and the sella was longer than the norm as shown by multi-detector row computed tomography cephalometric analysis. The areas of the cranium and maxilla of patients with Sotos syndrome were larger than those of the control group, as measured on cephalometric images. The area of the sella turcica in patients with Sotos syndrome was also larger than that in the controls without significant difference and the morphology of the sella turcica was similar to that of the control. The morphology of the chin in patients with Sotos syndrome showed more protrusion than that in the controls. Early formation of teeth was found in the upper and lower first molars of patients with Sotos syndrome. Eight patients with Sotos syndrome, 6–13 years of age, had craniofacial characteristics of cranium and maxilla overgrowth, but no significant difference was observed in the mandible size between patients with Sotos syndrome and control subjects. No sella turcica bridging or early root formation of the first molars was seen in patients with Sotos syndrome.