Sotos syndrome with oligodontia: Case report

Abstract

We present a case of Sotos syndrome. A 2-year-1-month-old Japanese boy diagnosed with Sotos syndrome was referred to our clinic for an oral examination. His growth from birth to the age of 4 years 11 months was pronounced above the 97th percentile. The primary teeth erupted extremely early, with the lower central incisors appearing at the age of 5 months, and all the primary teeth except the lower lateral incisors erupted by the age of 2 years 1 month. In addition, the lower permanent first molar erupted at the age of 4 years 6 months. However, mean dental age did not advance with chronological age. The tooth morphology appeared to be normal, however, the primary teeth were easily degraded by attrition, suggesting the poor calcification. A radiographic examination showed congenital missing of the lower primary and permanent lateral incisors, second premolars, and upper first premolars. In addition, the roots of the primary molars were extremely long and the ration of root length to crown length shown in panoramic radiographs was high. 97th percentile for age 2). It was recently reported that the syndrome is caused by a mutation in the gene for the nuclear receptor-binding SET domain-containing protein (NSD1) 5). There are few studies regarding oral manifestations associated with Sotos syndrome. Callanan et al. 6) reported a patient with Class 1 malocclusion with lower anterior crowding and severe dental caries in the primary molars. Further, congenital missing was found for all premolars, all third molars, the upper lateral incisors, and the lower left second molar in the permanent dentition. In another study, Inokuchi et al. 7) found enamel hypoplasia in all the primary canines and molars, and congenital missing of the upper first and second premolars, though no dental caries were observed. In the present report, the dental manifestations of a patient with Sotos syndrome are presented.

Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene

“…The oral manifestations observed in common with both deletion and mutation type Sotos syndrome patients noted here were a high palate, excessive tooth wear, recession of maxilla, deep bite, crowding, and hypodontia. Hypodontia has been previously described by several authors [Inokuchi et al, 2001; Callnan et al, 2006; Gomes‐Silva et al, 2006; Nishimura et al, 2008]. Kotilainen et al [2009] recently investigated 13 patients with Sotos syndrome (12 patients with NSD1 mutations and one with NSD1 deletion) and found one or more premolar teeth were absent in 9 out of 13 patients (8 out of 12 mutation patients and one deletion‐type patient).…”

“…It may be accompanied by a variety of complications, including cardiovascular, urinogenital, and ophthalmic malformations, skeletal abnormalities, and seizures. Dental and oral findings have been reported to include premature tooth eruption, hypodontia, enamel hypoplasia, excessive tooth wear, maxillary and mandibular recession, talon cusps, fused teeth, and expanded pulp cavity of deciduous teeth [Welbury and Fletcher, 1988; Cole and Hughes, 1994; Inokuchi et al, 2001; Gomes‐Silva et al, 2006; Takei et al, 2007; Nishimura et al, 2008].…”

Suspected cerebral gigantism diagnosed by dental examination

“…There is a limited number of dental findings reported for cerebral gigantism patients [7][8][9][10][11] most of which described cases referred from medical doctors to dentists [8][9][10][11] . In the present case, the dental clinical findings led us to refer our patient to a pediatrician for general examinations, where she was diagnosed with suspected cerebral gigantism.…”

“…We consider that this finding is associated with advanced bone age, which is known to be a clinical feature of the disease [1][2][3] . Other features of cases of cerebral gigantism are congenital absence of permanent teeth [9][10][11] and prominent attrition of primary teeth, which has been proposed to be due to poor calcification 11) . In the present case, no congenital absence of permanent teeth or attrition of primary teeth was observed.…”