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.

Sotos syndrome is a well‐known overgrowth syndrome caused by haploinsufficiency of NSD1 gene located at 5q35. There are two types of mutations that cause NSD1 haploinsufficiency: mutations within the NSD1 gene (mutation type) and a 5q35 submicroscopic deletion encompassing the entire NSD1 gene (deletion type). We investigated detailed craniofacial, dental, and oral findings in five patients with deletion type, and three patients with mutation type Sotos syndrome. All eight patients had a high palate, excessive tooth wear, crowding, and all but one patient had hypodontia and deep bite. Hypodontia was exclusively observed in the second premolars, and there were no differences between the deletion and mutation types in the number of missing teeth. Another feature frequently seen in common with both types was maxillary recession. Findings seen more frequently and more pronounced in deletion‐type than in mutation‐type included mandibular recession, scissors or posterior cross bite, and small dental arch with labioclination of the maxillary central incisors. It is noteworthy that although either scissors bite or cross bite was present in all of the deletion‐type patients, neither of these was observed in mutation‐type patients. Other features seen in a few patients include enamel hypoplasia (two deletion patients), and ectopic tooth eruption (one deletion and one mutation patients). Our study suggests that Sotos syndrome patients should be observed closely for possible dental and oral complications especially for malocculusion in the deletion‐type patients. © 2011 Wiley Periodicals, Inc.

Proper understanding of the orofacial development and deformities associated with various syndromes is important for planning appropriate dental treatment and improving the craniofacial features. However, it is quite difficult to take cephalometric radiographs of patients with severe mental retardation or behavioral disorders, since patient co-operation and stability of body movement are necessary while taking the radiographs. Computed tomography (CT) is potentially a better tool for the diagnosis and treatment planning of complex maxillofacial deformities than conventional lateral cephalograms. CT images of patients with mental retardation can be taken under general anesthesia. The absorbed dose of radiation in 128 slice multi-detector row computed tomography (MDCT) used in this study is established as CTDI vol. 17.24 mGy, which is less than that of conventional CT (65 mGy). However, the use of MDCT for cephalometric analysis in pediatric dentistry has not been reported. Hence, the aim of the present study was to compare the reliability and difference of angle and linear measurements of craniofacial form using the landmarks on conventional and MDCT lateral cephalograms of human skulls. The results of this study showed that angular and linear measurements recorded from conventional and MDCT lateral cephalograms were similar. In conclusion, there were no significant differences in the mean and standard deviation of angular and linear measurements between conventional and MDCT lateral cephalograms of human skulls. Angular and linear analysis on MDCT cephalogram might show good precision for craniofacial analysis.

In pediatric dentistry, examination of the development of crown or tooth root is essential to determine the physiological development age. Measurements of the tooth size and dental arch width are also required to predict normal occlusion and oral function, and to plan appropriate dental treatment. Some dental anomalies are keys to identify congenital malformation syndromes. In patients with behavioral disorders, it is quite difficult to take diagnostic dental models and pantomographs, since patient co-operation and stability in body movement for a few minutes is necessary while taking the dental impression and pantomographs. For patients with severe mental retardation and behavioral disorders, performing computed tomography under general anesthesia or deep sedation is easier than taking pantomographs while awake. The aim of the present study was to compare the tooth development stage on pantomographs and mesiodistal diameter measurements of tooth size and dental arch width of dry human skulls with the images of those on 128 multi-detector row computed tomography (MDCT). Based on the results, the measurements of tooth development stage, tooth size and dental arch width on MDCT images were clinically precise.

X-linked anhidrotic (hidrotic) ectodermal dysplasia (EDA) is characterized by absence or the deficient functions of hair, teeth and sweat glands. The temperature adjustment of EDA is difficult in the state of the high temperature. We investigated whether this air-conditioning clothing (Kuchofuku®) was effective to the patient with EDA. It was revealed that the patient's body surface and deep body temperatures rose in spite of gentle exercise without air-conditioning clothing, and that when they used it, although their deep body temperature slightly rose during exercise, their body surface temperature did not rise. It also suggested that, not only patients with EDA, but also the people who have trouble in perspiration can widen their sphere of daily activities by using it.