SATB2相关综合征(SAS;OMIM:612,313)是由SATB2基因的几种变体引起的常染色体显性遗传多系统疾病。SAS的特点是智力残疾,发育迟缓,严重的言语异常,颅面异常,和牙齿异常。这里,我们报告了三名中国SAS儿童的原发性牙列表型。
三例SAS患者均显示智力残疾,言语和语言异常,和上颚异常.对于牙齿表型,所有三个病例都显示了巨大的,拥挤的牙列,广泛的龋齿,根尖周脓肿和瘘。射线照片显示乳牙的根尖大开,下颌第二双尖牙丢失,恒牙牙根形成延迟,旋转的牙齿,和牛磺酸症。案例1的Sanger测序显示存在杂合的代码移位变异,c1985delT(p.F662Sfs*9)在SATB2基因中,这在文献中没有报道过。根管治疗,龋齿修复,拔牙得到了及时的管理,同时定期进行预防性牙科护理。
SAS原牙列的牙齿表型可能表现为巨牙体,拥挤的牙列,严重的龋齿,乳牙的宽开口根尖,下颌第二双尖牙丢失,恒牙牙根形成延迟,旋转的牙齿,和牛磺酸症。定期口腔卫生指导和预防性牙齿护理都是必需的。
SATB2-associated syndrome (SAS; OMIM: 612,313) is an autosomal dominant inherited multisystemic disorder caused by several variants of the SATB2 gene. SAS is characterized by intellectual disability, developmental delay, severe speech anomalies, craniofacial anomalies, and dental abnormalities. Here, we report the dental phenotype of primary dentition of three Chinese children with SAS.
All three cases with SAS showed intellectual disability, speech and language anomalies, and palate anomalies. For the dental phenotype, all three cases showed macrodontia, crowded dentition, extensive caries, periapical abscesses and fistulas. Radiographs showed the wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Sanger sequencing of case 1 showed that there was a heterozygous code shift variation, c1985delT (p.F662Sfs*9) in the SATB2 gene, which has not been reported in literature. Root canal therapy, carious restoration, and teeth extraction were managed promptly, while preventive dental care was given regularly.
The dental phenotype of primary dentition in SAS may show macrodontia, crowded dentition, severe caries, wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Regular oral hygiene instructions and preventive dental care are both required.